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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SDHD Gene

protein-coding   GIFtS: 67
GCID: GC11P111991

Succinate Dehydrogenase Complex, Subunit D, Integral Membrane...


(Previous symbols: PGL, PGL1)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Succinate Dehydrogenase Complex, Subunit D, Integral Membrane
Protein1 2
     SDH42 3
PGL11 2 5     CBT12
PGL1 2     CWS32
Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit2 3     cybS2
Succinate-Ubiquinone Reductase Membrane Anchor Subunit2 3     Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit,
Mitochondrial2
CII-42 3     CybS3
QPs32 3     Succinate Dehydrogenase Complex Subunit D3

External Ids:    HGNC: 106831   Entrez Gene: 63922   Ensembl: ENSG000002043707   OMIM: 6026905   UniProtKB: O145213   

Export aliases for SDHD gene to outside databases

Previous GC identifers: GC11P114310 GC11P113469 GC11P111495 GC11P111462 GC11P107881


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SDHD Gene:
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of
succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side
of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,
including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal
allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on
chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Feb 2013)

GeneCards Summary for SDHD Gene: 
SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) is a protein-coding gene. Diseases associated with SDHD include carotid body tumor, and merkel cell carcinoma, and among its related super-pathways are Citric acid cycle (TCA cycle) and Electron Transport Chain. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is ENSG00000255292.

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the
mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone
(coenzyme Q) (By similarity)

Gene Wiki entry for SDHD Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDHD gene promoter:
         FOXD3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Tal-1beta   AREB6   RORalpha1   Nkx6-1   Pax-4a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDHD promoter sequence
   Search SABiosciences Chromatin IP Primers for SDHD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23

SDHD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDHD gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111991:  view genomic region     (about GC identifiers)

Start:
111,957,497 bp from pter      End:
111,990,353 bp from pter
Size:
32,857 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521 (See protein sequence)
Recommended Name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial precursor  
Size: 159 amino acids; 17043 Da
Subunit: Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP)
SDHB, and a cytochrome b560 composed of SDHC and SDHD
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: A6ND90 B3KQQ8 Q53XW5 Q6IRW2

Explore the universe of human proteins at neXtProt for SDHD: NX_O14521

Explore proteomics data for SDHD at MOPED 

SDHD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

SDHD Protein Expression

REFSEQ proteins (4 alternative transcripts): 
NP_001263432.1  NP_001263433.1  NP_001263435.1  NP_002993.1  

ENSEMBL proteins: 
 ENSP00000364699   ENSP00000435475   ENSP00000436217   ENSP00000432465   ENSP00000432005  
 ENSP00000436669   ENSP00000432946   ENSP00000433202  
Reactome Protein details: O14521
Human Recombinant Protein Products for SDHD: 
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OriGene Custom Protein Services for SDHD
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Novus Biologicals SDHD Proteins
Novus Biologicals SDHD Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for SDHD 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion TAS2302193
GO:0005740mitochondrial envelope TAS9533030
GO:0005743mitochondrial inner membrane TAS--
GO:0005749mitochondrial respiratory chain complex II ISS--
GO:0016021integral to membrane IEA--

SDHD for ontologies           About GeneDecksing



SDHD Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of SDHD
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Abcam antibodies for SDHD
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ThermoFisher Antibodies for SDHD
LSBio Antibodies in human, mouse, rat for SDHD 

Assay Products for SDHD: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for SDHD
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for SDHD
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for SDHD 
Cloud-Clone Corp. CLIAs for SDHD


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
comII: Mitochondrial respiratory chain complex / Complex II

1 InterPro protein domain:
 IPR007992 CybS

Graphical View of Domain Structure for InterPro Entry O14521

ProtoNet protein and cluster: O14521

1 Blocks protein domain: IPB007992 CybS

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Similarity: Belongs to the CybS family


SDHD for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: DHSD_HUMAN, O14521
Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the
mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone
(coenzyme Q) (By similarity)

     Genatlas biochemistry entry for SDHD:
succinate dehydrogenase,cyb S subunit,liver,inner mitochondrial membrane,component 4 of complex II of
mitochondrial respiratory chain (CII-4),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of
the citric acid cycle

     Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000104succinate dehydrogenase activity IDA9533030
GO:0009055electron carrier activity TAS9533030
GO:0020037heme binding ISS--
GO:0046872metal ion binding IEA--
GO:0048039ubiquinone binding ISS--
     
SDHD for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for SDHD:
 Increased mitotic index 

     11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sdhd):
 behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
 growth/size  homeostasis/metabolism  mortality/aging  nervous system  normal 
 tumorigenesis 

SDHD for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Sdhdtm1Jlob for SDHD

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SDHD 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SDHD

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SDHD 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SDHD 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SDHD
3 QIAGEN miScript miRNA Assays for microRNAs that regulate SDHD:
hsa-miR-544 hsa-miR-204 hsa-miR-211
SwitchGear 3'UTR luciferase reporter plasmidSDHD 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for SDHD
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for SDHD
Sirion Biotech Customized adenovirus for overexpression of SDHD

Clone
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OriGene clones in human, mouse for SDHD (see all 7)
OriGene ORF clones in mouse, rat for SDHD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SDHD (NM_003002)
Sino Biological Human cDNA Clone for SDHD
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD
Sirion Biotech Customized lentivirus for stable overexpression of SDHD 
                     Customized lentivirus expression plasmids for stable overexpression of SDHD 

Cell Line
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GenScript Custom overexpressing Cell Line Services for SDHD
Search LifeMap BioReagents cell lines for SDHD
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SDHD About   (see all 6)                                                                                              See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Citric acid cycle (TCA cycle)
Citric acid cycle (TCA cycle)0.89
TCA cycle0.84
TCA Cycle0.89
Citrate cycle (TCA cycle)0.58
2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
Parkinson's disease0.61
Respiratory electron transport0.81
Huntington's disease0.47
Electron Transport Chain0.75
Alzheimer's disease0.46
The citric acid (TCA) cycle and respiratory electron transport0.72
Non-alcoholic fatty liver disease (NAFLD)0.41
3Metabolism
Metabolism0.40
Metabolic pathways0.40
4Pyruvate metabolism
Pyruvate metabolism and Citric Acid (TCA) cycle0.49
5Glycolysis and gluconeogenesis (short map)
Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


4 BioSystems Pathways for SDHD
    TCA Cycle
Electron Transport Chain
TCA cycle
Conversion of glucose to acetyl CoA and entry into the TCA cycle


5/6        Reactome Pathways for SDHD (see all 6)
    Pyruvate metabolism and Citric Acid (TCA) cycle
Respiratory electron transport
Metabolism
Citric acid cycle (TCA cycle)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.


5/8         Kegg Pathways  (Kegg details for SDHD) (see all 8):
    Citrate cycle (TCA cycle)
Oxidative phosphorylation
Metabolic pathways
Carbon metabolism
Non-alcoholic fatty liver disease (NAFLD)

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Pathway: Carbohydrate metabolism; tricarboxylic acid cycle


SDHD for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SDHD

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for SDHD (O145213 ENSP000003646994) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

InteractantInteraction Details
GeneCardExternal ID(s)
SDHCQ996433, ENSP000003569534I2D: score=2 STRING: ENSP00000356953
SDHAP310403, ENSP000002649324I2D: score=1 STRING: ENSP00000264932
CYC1ENSP000003171594STRING: ENSP00000317159
ENSG00000267059ENSP000002629464STRING: ENSP00000262946
FHENSP000003555184STRING: ENSP00000355518
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006099tricarboxylic acid cycle TAS--
GO:0022904respiratory electron transport chain TAS--
GO:0044237cellular metabolic process TAS--
GO:0044281small molecule metabolic process TAS--

SDHD for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SDHD for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SDHD (DHSD)

9 HMDB Compounds for SDHD    About this table
CompoundSynonyms CAS #PubMed Ids
FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
Heme(protoporphyrinato)iron (see all 19)14875-96-8--
IronArmco iron (see all 19)7439-89-6--
QH2CoQH2 (see all 5)56275-39-9--
Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
SulfideSulfide (see all 4)18496-25-8--
Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

4 DrugBank Compounds for SDHD    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16288654 16374125 15989954 17520677 16405730
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
Hexachlorophene-- 70-30-4targetinhibitor10487417
UBIQUINONE-1-- --target--10592235

7 Novoseek inferred chemical compound relationships for SDHD gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
succinate 92.2 84 16080530 (2), 11404820 (1), 12782822 (1), 12811540 (1) (see all 74)
mibg 67.4 1 17898811 (1)
fumarate 60.2 3 19573790 (1), 16327764 (1), 18728283 (1)
catecholamine 51.5 1 17227803 (1)
ubiquinone 51 1 15989954 (1)
iron-sulfur 48.2 3 11692162 (1), 15989954 (1), 16288654 (1)
oxygen 8.79 5 12811540 (2), 19768395 (1), 17487275 (1), 17376234 (1)

Search CenterWatch for drugs/clinical trials and news about SDHD / DHSD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SDHD gene (4 alternative transcripts): 
NM_001276503.1  NM_001276504.1  NM_001276506.1  NM_003002.3  

Unigene Cluster for SDHD:

Succinate dehydrogenase complex, subunit D, integral membrane protein
Hs.744039  [show with all ESTs]
Unigene Representative Sequence: NM_001276506
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375549(uc001pmz.3) ENST00000528182 ENST00000528048 ENST00000528021
ENST00000526592 ENST00000525291 ENST00000530923 ENST00000534010

miRNA
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3 QIAGEN miScript miRNA Assays for microRNAs that regulate SDHD:
hsa-miR-544 hsa-miR-204 hsa-miR-211
SwitchGear 3'UTR luciferase reporter plasmidSDHD 3' UTR sequence
Inhib. RNA
Products:
     
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Clone
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SDHD (NM_003002)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD
Sirion Biotech Customized lentivirus for stable overexpression of SDHD 
                     Customized lentivirus expression plasmids for stable overexpression of SDHD 
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHD
  Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHD

Additional mRNA sequence: 

AB006202.1 AK075360.1 BC005263.1 BC009574.1 BC012603.1 BC015188.1 BC015992.1 BC022350.1 
BC070307.1 BC071755.1 BC071756.1 BT007238.1 CR456932.1 NR_077060.1 

24/31 DOTS entries (see all 31):

DT.92472464  DT.92472520  DT.102843291  DT.92472459  DT.100863770  DT.95280165  DT.100863783  DT.120733756 
DT.120733813  DT.92472499  DT.100863779  DT.120733902  DT.121396544  DT.100863778  DT.120733779  DT.121100864 
DT.100039225  DT.100863769  DT.100863776  DT.100863781  DT.120733736  DT.120733740  DT.120733796  DT.120733817 

24/1371 AceView cDNA sequences (see all 1371):

CB054053 CB216076 BQ229571 BU732625 CB160539 NM_031938 CB157471 CA947141 
BX354210 BG569394 CK430277 BE207116 BG403639 BU839269 BM823116 AA315473 
BC041656 CB269669 CB162567 BQ962548 AL561498 AJ709307 BC022350 BX476384 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SDHD expression in normal human tissues (normalized intensities)      SDHD embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATAAAAACT
SDHD Expression
About this image


SDHD expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/20 selected tissues (see all 20) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Medulla Oblongata
         ganglion/cranial   
 
 Heart (Cardiovascular System)    fully expand to see all 2 entries
         heart/ventricle   
 
 Nose (Sensory Organs)    fully expand to see all 2 entries
         sensory organ/nose/nasal cavity   
 
 Blood (Muscoskeletal System)    fully expand to see all 2 entries
         mouse/organ system/cardiovascular system   
 
 Adipose (Muscoskeletal System)    fully expand to see all 2 entries
         Thoracic Perivascular Adipose

See SDHD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SDHD

SOURCE GeneReport for Unigene cluster: Hs.744039
    SABiosciences Expression via Pathway-Focused PCR Arrays including SDHD: 
          Mitochondrial Energy Metabolism in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Glucose Metabolism in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for SDHD
OriGene qSTAR qPCR primer pairs in human, mouse for SDHD
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SDHD
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHD
Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHD
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SDHD gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sdhd1 , 5 succinate dehydrogenase complex, subunit D, integral more1, 5 83.02(n)1
82.39(a)1
  9 (27.75 cM)5
669251  NM_025848.31  NP_080124.11 
 505963405 
chicken
(Gallus gallus)
Aves SDHD1 succinate dehydrogenase complex, subunit D, integral more 63.5(n)
66.42(a)
  419793  NM_001006321.1  NP_001006321.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
83(a)
1 → many
GL343973.1(62978-65730)
zebrafish
(Danio rerio)
Actinopterygii CB361274.12   -- 77.09(n)    CB361274.1 
fruit fly
(Drosophila melanogaster)
Insecta CG102191 CG10219 47.84(n)
37.04(a)
  42808  NM_142924.2  NP_651181.1 
worm
(Caenorhabditis elegans)
Secernentea sdhd-16
Putative succinate dehydrogenase [ubiquinone] cyto...
35(a)
1 → many
II(11049144-11051753)


ENSEMBL Gene Tree for SDHD (if available)
TreeFam Gene Tree for SDHD (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SDHD gene
ENSG000002552922  

SDHD for paralogs           About GeneDecksing


5/6 Pseudogenes.org Pseudogenes for SDHD (see all 6)
PGOHUM00000234863 PGOHUM00000240819 PGOHUM00000241031 PGOHUM00000258152 PGOHUM00000258163


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/353 SNPs in SDHD are shown (see all 353)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0100394
Pheochromocytoma (PCC)4--see VAR_0100392 D Y mis40--------
VAR_0100384
Pheochromocytoma (PCC)4--see VAR_0100382 P L mis40--------
VAR_0543854
Paragangliomas 1 (PGL1)4--see VAR_0543852 G V mis40--------
VAR_0178734
Paragangliomas 1 (PGL1)4--see VAR_0178732 L P mis40--------
VAR_0100404
Paragangliomas 1 (PGL1)4--see VAR_0100402 H L mis40--------
VAR_0178724
Paragangliomas 1 (PGL1)4--see VAR_0178722 Y C mis40--------
rs803388421,2
Cpathogenic1111821102(+) GAGATC/GGCGGT 11 I M mis10--------
rs1048943101,2
Cpathogenic1111821113(+) TCTCTA/GGAGGC 11 * W stg10--------
rs1048943091,2
Cpathogenic1111821132(+) GTTTGA/CGGTGC 9 * C stg10--------
rs346775911,2,4
C,Fpathogenic1111821133(+) TTTGCG/AGTGCC 9 /S /G mis16Minor allele frequency- A:0.01EU NA 6171

HapMap Linkage Disequilibrium report for SDHD (111957497 - 111990353 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SDHD:    About this table     
Variant IDTypeSubtypePubMed ID
esv2745077CNV Deletion23290073


Human Gene Mutation Database (HGMD): SDHD

Locus Specific Mutation Databases (LSDB): SDHD
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing SDHD
DNA2.0 Custom Variant and Variant Library Synthesis for SDHD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 602690   
OMIM disorders: 168000  171300  114900  606864  612359  
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
  • Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue
    of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly
    benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid
    body is the largest of all paraganglia and is also the most common site of the tumors. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal
    medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and
    norepinephrine, is hypertension, which may be persistent or intermittent. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that
    arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the
    gastrointestinal tract. Note=Disease susceptibility is associated with variations affecting the gene represented
    in this entry
  • Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be
    sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with
    other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal
    stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant
    manner, with incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Cowden syndrome 3 (CWS3) [MIM:615106]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with
    age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of
    ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair
    follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several
    types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon
    cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but
    most commonly in the skin, gastrointestinal tract, breast and thyroid. Note=The disease may be caused by
    mutations affecting the gene represented in this entry

  • 20/54 diseases for SDHD (see all 54):    About MalaCards
    carotid body tumor    merkel cell carcinoma    sdhd-related hereditary paraganglioma-pheochromocytoma syndrome    sdhd-related paraganglioma and gastric stromal sarcoma
    paragangliomas, familial nonchromaffin, 1, with or without deafness    carcinoid tumors, intestinal    pheochromocytoma    phaeochromocytoma
    cerebellopontine angle tumor    chondroma    paraganglioma    carney triad
    cowden-like syndrome    paraganglioma and gastric stromal sarcoma    hereditary paraganglioma-pheochromocytoma syndromes    gastric lymphoma
    von hippel-lindau disease    mitochondrial complex ii deficiency    neural crest tumor    neurofibromatosis

    5 diseases from the University of Copenhagen DISEASES database for SDHD:
    Paraganglioma     Leprosy     Phaeochromocytoma     Hemangioma
    Neurofibromatosis

    SDHD for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/28 Novoseek inferred disease relationships for SDHD gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraganglioma 97.5 214 11526495 (5), 15328326 (5), 15905695 (4), 17102086 (4) (see all 99)
    pheochromocytoma 93.1 173 15774781 (6), 11397905 (5), 17308434 (5), 19215943 (5) (see all 81)
    von hippel-lindau disease 86.1 10 16001332 (1), 12928344 (1), 17119341 (1), 19522823 (1) (see all 10)
    carotid body tumor 85.5 7 17041923 (1), 16249420 (1), 11391796 (1), 15602946 (1) (see all 7)
    multiple endocrine neoplasia 85.1 10 15788647 (1), 15531530 (1), 17102076 (1), 17102083 (1) (see all 10)
    neurofibromatosis type 1 78.6 14 15788647 (1), 16001332 (1), 12928344 (1), 17102076 (1) (see all 13)
    carney triad 70 1 19522821 (1)
    germ-line mutation 68.3 13 17576205 (5), 11156372 (2), 19399650 (1), 10657297 (1) (see all 7)
    glomus tumor 61 2 12000816 (1), 17102085 (1)
    multiple tumors 59.7 4 16249420 (1), 16317055 (1), 15774781 (1)

    GeneTests: SDHD
    GeneReviews: SDHD
    Genetic Association Database (GAD): SDHD
    Human Genome Epidemiology (HuGE) Navigator: SDHD (34 documents)

    Export disorders for SDHD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SDHD gene, integrated from 9 sources (see all 266) (see top 10):
    (articles sorted by number of sources associating them with SDHD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PubMed id 15328326)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2004)
    2. Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2002)
    3. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PubMed id 18678321)1, 2, 4 Ni Y.... Eng C. (2008)
    4. Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. (PubMed id 9533030)1, 2, 3 Hirawake H.... Kita K. (1997)
    5. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PubMed id 11156372)1, 2, 9 Gimm O.... Eng C. (2000)
    6. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. (PubMed id 11391796)1, 2, 9 Badenhop R.F....Schofield P.R. (2001)
    7. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)1, 2, 9 Baysal B.E.... Devlin B. (2000)
    8. Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. (PubMed id 19215943)1, 4, 9 Meyer-Rochow G.Y....Benn D.E. (2008)
    9. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PubMed id 11897817)1, 4, 9 Baysal B.E.... Rubinstein W.S. (2002)
    10. Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. (PubMed id 17639058)1, 4, 9 Korpershoek E....de Krijger R.R. (2007)
    11. Germline SDHD mutation in paraganglioma of the spinal cord. (PubMed id 11526495)1, 2, 9 Masuoka J.... Ohgaki H. (2001)
    12. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. (PubMed id 11391798)1, 2, 9 Taschner P.E.M.... Devilee P. (2001)
    13. Tumor risks and genotype-phenotype-proteotype analysi s in 358 patients with germline mutations in SDHB and SDHD. (PubMed id 19802898)1, 4, 9 Ricketts C.J....Maher E.R. (2010)
    14. Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. (PubMed id 10482792)1, 2, 9 Hirawake H.... Kita K. (1999)
    15. Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. (PubMed id 20205103)1, 4, 9 Krawczyk A....Jarzab B. (2010)
    16. Rationalization of Genetic Testing in Patients with Apparently Sporadic Pheochromocytoma/Paraganglioma. (PubMed id 19343621)1, 4, 9 CascA^n A....Robledo M. (2009)
    17. Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. (PubMed id 17102080)1, 4, 9 Korpershoek E....Dinjens W.N. (2006)
    18. Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. (PubMed id 12007193)1, 2, 9 Kytoelae S.... Larsson C. (2002)
    19. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. (PubMed id 11343322)1, 2, 9 Milunsky J.M.... Milunsky A. (2001)
    20. Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. (PubMed id 19399650)1, 4, 9 Waldmann J....Slater E.P. (2009)
    21. Clinical predictors and algorithm for the genetic dia gnosis of pheochromocytoma patients. (PubMed id 19825962)1, 4, 9 Erlic Z....Neumann H.P. (2009)
    22. A role for succinate dehydrogenase genes in low chemo responsiveness to hypoxia? (PubMed id 19768395)1, 4, 9 Richalet J.P....Elghozi J.L. (2009)
    23. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. (PubMed id 18551016)1, 4, 9 Persu A....Vikkula M. (2008)
    24. Malignant head and neck paragangliomas in SDHB mutation carriers. (PubMed id 17599579)1, 4, 9 Boedeker C.C....Ridder G.J. (2007)
    25. Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia. (PubMed id 14557476)1, 4, 9 Lima J....Sobrinho-Simoes M. (2003)
    26. Isocitrate dehydrogenase mutations are rare in pheoch romocytomas and paragangliomas. (PubMed id 19915015)1, 4, 9 Gaal J....Dinjens W.N. (2010)
    27. Genetics of pheochromocytoma and paraganglioma in Spanish patients. (PubMed id 19258401)1, 4, 9 CascA^n A....Robledo M. (2009)
    28. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. (PubMed id 19223516)1, 4, 9 Mannelli M....Opocher G. (2009)
    29. Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? (PubMed id 19029228)1, 4, 9 Pigny P....Porchet N. (2008)
    30. Germline SDHB mutations and familial renal cell carcinoma. (PubMed id 18728283)1, 4, 9 Ricketts C....Maher E.R. (2008)
    31. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PubMed id 17298551)1, 4, 9 Bonache S....Larriba S. (2007)
    32. SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. (PubMed id 15032977)1, 2, 9 Leube B.... Royer-Pokora B. (2004)
    33. Development and validation of a comprehensive mutatio n and deletion detection assay for SDHB, SDHC, and SDHD. (PubMed id 20153743)1, 4 Milosevic D....Grebe S.K. (2010)
    34. Relevance of germline mutation screening in both fami lial and sporadic head and neck paraganglioma for early diagnosis and clinical management. (PubMed id 20208144)1, 4 Hermsen M.A....SuA!rez C. (2010)
    35. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    36. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    37. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    38. Familial gastrointestinal stromal tumors and germ-line mutations. (PubMed id 17804857)1, 2 McWhinney S.R....Stratakis C.A. (2007)
    39. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. (PubMed id 16322339)1, 4 Montani M....Perren A. (2005)
    40. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    41. Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma. (PubMed id 15623805)1, 4 Cascon A....Robledo M. (2005)
    42. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    43. G12S and H50R variations are polymorphisms in the SDHD gene. (PubMed id 12696072)1, 2 Cascon A.... Robledo M. (2003)
    44. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. (PubMed id 1301144)1, 3 Heutink P....Oostra B.A. (1992)
    45. Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. (PubMed id 17308434)1, 9 Isobe K....Takekoshi K. (2007)
    46. Reduced expression and loss of heterozygosity of the SDHD gene in colorectal and gastric cancer. (PubMed id 12883710)1, 9 Habano W....Horiuchi S. (2003)
    47. Molecular characterization of novel germline deletion s affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients. (PubMed id 19546167)1, 9 Bayley J.P....Vriends A.H. (2009)
    48. Identification of a 4.9-kilo base-pair Alu-mediated f ounder SDHD deletion in two extended paraganglioma families from Austria. (PubMed id 20111059)1, 9 Janecke A.R....Baysal B.E. (2010)
    49. Novel SDHD germ-line mutations in pheochromocytoma patients. (PubMed id 17576205)1, 9 Neumayer C....Haas O.A. (2007)
    50. LOH on chromosome 11q, but not SDHD and Men1 mutations was frequently detectable in Chinese patients with pheochromocytoma and paraganglioma. (PubMed id 17526943)1, 9 Sun H.Y....Ning G. (2006)
    51. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. (PubMed id 15064708)1, 9 Hensen E.F....Cornelisse C.J. (2004)
    52. Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. (PubMed id 15531530)1, 9 McWhinney S.R....Eng C. (2004)
    53. The succinate dehydrogenase genetic testing in a larg e prospective series of patients with paragangliomas. (PubMed id 19454582)4, 9 Burnichon N....Gimenez-Roqueplo A.P. (2009)
    54. An immunohistochemical procedure to detect patients w ith paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. (PubMed id 19576851)4, 9 van Nederveen F.H....Dinjens W.N. (2009)
    55. Germline SDHD mutation in familial phaeochromocytoma. (PubMed id 11323050)1, 9 Astuti D....Maher E.R. (2001)
    56. Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas. (PubMed id 11397905)1, 9 Aguiar R.C....Dahia P.L. (2001)
    57. Mutations associated with succinate dehydrogenase D-related malignant paragangliomas. (PubMed id 17973943)1, 9 Timmers H.J....Gimenez-Roqueplo A.P. (2008)
    58. Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. (PubMed id 15066320)1, 9 Riemann K....Blin N. (2004)
    59. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. (PubMed id 11605159)1, 9 Gimenez-Roqueplo A.P....Jeunemaitre X. (2001)
    60. Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. (PubMed id 20236688)1, 9 Gill A.J....Clifton-Bligh R.J. (2010)
    61. Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior. (PubMed id 19075037)1, 9 Ghayee H.K....Auchus R.J. (2009)
    62. A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications. (PubMed id 19239085)1, 9 Prontera P....Donti E. (2008)
    63. Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation. (PubMed id 19205158)1, 9 Hartzell L.D....Dornhoffer J. (2008)
    64. Analysis of SDHD and MMP12 in an affected solar keratosis and control cohort. (PubMed id 17727250)1, 9 Lintell N.A....McCabe M. (2007)
    65. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. (PubMed id 16288654)7, 9 Bayley J.P....Taschner P.E. (2005)
    66. Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? (PubMed id 12782822)1, 9 Lee S.C....Taschner P.E. (2003)
    67. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. (PubMed id 12811540)1, 9 Astrom K....Baysal B.E. (2003)
    68. Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. (PubMed id 19072999)1, 9 Marvin M.L....Gruber S.B. (2009)
    69. W43X SDHD mutation in sporadic head and neck paraganglioma. (PubMed id 18561749)1, 9 Galera-Ruiz H....Galera-Davidson H. (2008)
    70. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. (PubMed id 17667967)1, 9 Pasini B....Stratakis C.A. (2008)
    71. The genetics of paragangliomas: a review. (PubMed id 17298303)1, 9 Martin T.P....Maher E.R. (2007)
    72. Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. (PubMed id 17227803)1, 9 Havekes B....Romijn J.A. (2007)
    73. Genetic testing in pheochromocytoma or functional paraganglioma. (PubMed id 16314641)1, 9 Amar L....Gimenez-Roqueplo A.P. (2005)
    74. Multiple pheochromocytomas and paragangliomas in a young patient carrying a SDHD gene mutation. (PubMed id 15365827)1, 9 Novosel A....Schmidt H. (2004)
    75. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PubMed id 14500403)2, 9 Gimenez-Roqueplo A.-P....Jeunemaitre X. (2003)
    76. The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational f amily. (PubMed id 19584903)1, 9 Hensen E.F....Devilee P. (2010)
    77. Chromosomal changes in sporadic and familial head and neck paragangliomas. (PubMed id 19393419)1, 9 Sevilla M.A....SuA!rez C. (2009)
    78. Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1. (PubMed id 18826997)1, 9 Peczkowska M....Neumann H.P. (2008)
    79. Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. (PubMed id 18211978)1, 9 Pigny P....Caron P. (2008)
    80. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. (PubMed id 16405730)7, 9 Bayley J.P....Taschner P.E. (2006)
    81. Crystal structure of mitochondrial respiratory membrane protein complex II. (PubMed id 15989954)7, 9 Sun F....Rao Z. (2005)
    82. High prevalence of occult paragangliomas in asymptomat ic carriers of SDHD and SDHB gene mutations. (PubMed id 22948026)1 Heesterman B.L....Jansen J.C. (2013)
    83. Mitochondrial complex II and genomic imprinting in inh eritance of paraganglioma tumors. (PubMed id 23291190)1 Baysal B.E. (2013)
    84. The role of complex II in disease. (PubMed id 23174333)1 Hoekstra A.S. and Bayley J.P. (2013)
    85. The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. (PubMed id 22456618)1 Schiavi F....Opocher G. (2012)
    86. Prevalence of germline mutations in patients with pheo chromocytoma or abdominal paraganglioma and sporadic presentation: a population- based study in Western Sweden. (PubMed id 22270996)1 Muth A....Wangberg B. (2012)
    87. Risk of malignant paraganglioma in SDHB-mutation and S DHD-mutation carriers: a systematic review and meta-analysis. (PubMed id 23099648)1 van Hulsteijn L.T....Corssmit E.P. (2012)
    88. Over-representation of the G12S polymorphism of the SD HD gene in patients with MEN2A syndrome. (PubMed id 22584711)1 Lendvai N....Patocs A. (2012)
    89. Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paraganglioma s. (PubMed id 21945342)1 Wang C.P....Lou P.J. (2012)
    90. Succinate dehydrogenase (SDH) D subunit (SDHD) inactiv ation in a growth-hormone-producing pituitary tumor: a new association for SDH? (PubMed id 22170724)1 Xekouki P....Stratakis C.A. (2012)
    91. Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytom a. (PubMed id 22573489)1 Weber A....Erlic Z. (2012)
    92. Prevalence and spectrum of SDHx mutations in pheochrom ocytoma and paraganglioma in patients from Belgium: an update. (PubMed id 22566194)1 Persu A....Vikkula M. (2012)
    93. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    94. Genomic imprinting at a boundary element flanking the SDHD locus. (PubMed id 21862453)1 Baysal B.E....Shadel G.S. (2011)
    95. Succinate dehydrogenase gene variants and their role i n Cowden syndrome. (PubMed id 21565294)1 Bayley J.P. (2011)
    96. Is the c.3G>C mutation in the succinate dehydrogen ase subunit D (SDHD) gene due to a founder effect in Chinese head and neck para ganglioma patients? (PubMed id 21792967)1 Zha Y....Gao Z.Q. (2011)
    97. A novel SDHD mutation associated with neck paraganglio ma. (PubMed id 21619495)1 Reboll R....Basterra J. (2011)
    98. Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. (PubMed id 21937622)1 Yeap P.M....Lindsay R.S. (2011)
    99. Mutations in SDHD are the major determinants of the cl inical characteristics of Dutch head and neck paraganglioma patients. (PubMed id 21561462)1 Hensen E.F....Vriends A.H. (2011)
    100. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (2010)
    101. Mutation analysis of the SDHB and SDHD genes in pheoc hromocytomas and paragangliomas: identification of a novel nonsense mutation (Q 168X) in the SDHB gene. (PubMed id 20505258)1 Oishi Y....Shimizu C. (2010)
    102. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    103. Pheochromocytomas and extra-adrenal paragangliomas de tected by screening in patients with SDHD-associated head-and-neck paragangliom as. (PubMed id 19289533)1 Havekes B....Corssmit E.P. (2009)
    104. Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene. (PubMed id 18840642)1 Timmers H.J....Eisenhofer G. (2008)
    105. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. (PubMed id 18987736)2 Ley T.J.... Wilson R.K. (2008)
    106. Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. (PubMed id 17520677)7 Lehtonen H.J....Aaltonen L.A. (2007)
    107. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)
    108. Redox stress is not essential for the pseudo-hypoxic phenotype of succinate dehydrogenase deficient cells. (PubMed id 16797480)1 Selak M.A....Gottlieb E. (2006)
    109. Fluorine-18 DOPA PET imaging of paraganglioma syndrom e. (PubMed id 16374125)7 Brink I....Neumann H.P. (2006)
    110. Succinate dehydrogenase deficiency in human. (PubMed id 16143825)1 Briere J.J....Rustin P. (2005)
    111. A role for mitochondrial enzymes in inherited neoplasia and beyond. (PubMed id 12612654)1 Eng C....Aaltonen L.A. (2003)
    112. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. (PubMed id 12114404)1 Dannenberg H....de Krijger R.R. (2002)
    113. Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. (PubMed id 11827452)1 Jia L....Francomano C.A. (2002)
    114. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. (PubMed id 12111639)1 Cascon A....Robledo M. (2002)
    115. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    116. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    117. In vitro kinetics of the rat brain succinate dehydrog enase inhibition by hexachlorophene. (PubMed id 10487417)7 Lokanatha V....Rajendra W. (1999)
    118. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. (PubMed id 7814027)1 Mariman E.C....Ropers H.H. (1995)
    119. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)
    120. Hereditary Paraganglioma -Pheochromocytoma Syndromes (PubMed id 20301715)1 Kirmani S. and Young W.F. (1993)
    121. Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria. (PubMed id 2302193)1 Kita K.... Kasahara M. (1990)
    122. No evidence for involvement of SDHD in neuroblastoma pathogenesis. (PubMed id 15331017)9 De Preter K....Speleman F. (2004)
    123. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. (PubMed id 14974914)9 Astuti D.... Maher E.R. (2003)
    124. Clinical characteristics of pheochromocytoma patients with germline mutations in SDHD. (PubMed id 15774781)9 Dannenberg H....Dinjens W.N. (2005)
    125. A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region. (PubMed id 11313745)9 Baysal B.E.... Devlin B. (2001)
    126. Predominant expression of mutated allele of the succu nate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas. (PubMed id 19550080)9 Yamashita R....Kaise K. (2009)
    127. A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma. (PubMed id 17041923)9 Ogawa K....Horii A. (2006)
    128. Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation. (PubMed id 15905695)9 Velasco A....Matias-Guiu X. (2005)
    129. Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. (PubMed id 16061558)9 Simi L....Mannelli M. (2005)
    130. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. (PubMed id 16249420)9 Schiavi F....Neumann H.P. (2005)
    131. SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. (PubMed id 15479192)9 Mhatre A.N....Lalwani A.K. (2004)
    132. Genomic imprinting and environment in hereditary paraganglioma. (PubMed id 15264276)9 Baysal B.E. (2004)
    133. Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. (PubMed id 12386824)9 Perren A....Komminoth P. (2002)
    134. Succinate dehydrogenase gene arrangement and expression in Anaplasma phagocytophilum. (PubMed id 18378408)9 Massung R.F....Lee K.N. (2008)
    135. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. (PubMed id 16317055)9 Benn D.E....Robinson B.G. (2006)
    136. Mutations of the SDHB and SDHD genes. (PubMed id 15883710)9 Pawlu C....Neumann H.P. (2005)
    137. Cloning, mapping and association study with carcass traits of the porcine SDHD gene. (PubMed id 15932396)9 Zhu Z.M....Zhao S.H. (2005)
    138. p53 alterations and their relationship to SDHD mutations in parasympathetic paragangliomas. (PubMed id 13679447)9 van Nederveen F.H....Dinjens W.N. (2003)
    139. [Extraadrenal pheochromocytoma associated to SDHD gene mutation] (PubMed id 19318336)9 Lendvai N....PatA^cs A. (2009)
    140. High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations. (PubMed id 17848412)9 Lima J....Garcia-Rostan G. (2007)
    141. SDH mutations in patients affected by paraganglioma syndromes: a personal experience. (PubMed id 17102085)9 Mannelli M....Genuardi M. (2006)
    142. Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. (PubMed id 17102086)9 Schiavi F....Opocher G. (2006)
    143. Carotid body paraganglioma and SDHD mutation in a Greek family. (PubMed id 16080474)9 Liapis C.D....Kostakis A. (2005)
    144. Paragangliomas in patients with mutations of the SDHD gene. (PubMed id 15746863)9 Boedeker C.C....Schipper J. (2005)
    145. Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. (PubMed id 16080530)9 Braun S....Blin N. (2005)
    146. The COPG2, DCN, and SDHD genes are biallelically expressed in cattle. (PubMed id 16151700)9 Khatib H. (2005)
    147. A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. (PubMed id 12509798)9 Renard L....Vikkula M. (2003)
    148. [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas] (PubMed id 12467161)9 Taschner P.E....van der Mey A.G. (2002)
    149. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. (PubMed id 19351833)9 Neumann H.P....Eng C. (2009)
    150. Clinical features of paraganglioma syndromes. (PubMed id 19568339)9 Boedeker C.C....Schipper J. (2009)
    151. Parasympathetic paragangliomas are part of the Von Hi ppel-Lindau syndrome. (PubMed id 19808854)9 Gaal J....de Krijger R.R. (2009)
    152. Analysis of selected genes in neuroendocrine tumours: insulinomas and phaeochromocytomas. (PubMed id 18510707)9 Hrascan R....Karapandza N. (2008)
    153. Loss of the SdhB, but Not the SdhA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis. (PubMed id 17967865)9 Guzy R.D....Schumacker P.T. (2008)
    154. Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. (PubMed id 17535989)9 Matyakhina L....Stratakis C.A. (2007)
    155. Expression of mRNAs for succinate dehydrogenase subunits and related genes in pheochromocytoma. (PubMed id 17102093)9 Isobe K....Kawakami Y. (2006)
    156. Von Hippel-Lindau disease and endocrine tumour susceptibility. (PubMed id 16728571)9 Woodward E.R. and Maher E.R. (2006)
    157. Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort. (PubMed id 17102079)9 Bausch B....Neumann H.P. (2006)
    158. Risk-oriented approach to hereditary adrenal pheochromocytoma. (PubMed id 17102110)9 Machens A....Dralle H. (2006)
    159. Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? (PubMed id 16735498)9 Jimenez C....Gagel R.F. (2006)
    160. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. (PubMed id 16787982)9 Bausch B....Neumann H.P. (2006)
    161. Pheochromocytoma-associated syndromes: genes, proteins and functions of RET, VHL and SDHx. (PubMed id 15883706)9 Gimm O. (2005)
    162. SDHC mutations in hereditary paraganglioma/pheochromocytoma. (PubMed id 15883704)9 Muller U....Niemann S. (2005)
    163. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. (PubMed id 12618761)9 Benn D.E.... Robinson B.G. (2003)
    164. Phenotypic dichotomy in mitochondrial complex II genetic disorders. (PubMed id 11692162)9 Baysal B.E....Taschner P.E. (2001)
    165. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. (PubMed id 11404820)9 Astuti D.... Maher E.R. (2001)
    166. Multiple losses and transfers to the nucleus of two mitochondrial succinate dehydrogenase genes during angiosperm evolution. (PubMed id 11454775)9 Adams K.L....Palmer J.D. (2001)
    167. SDHAF2 mutations in familial and sporadic paraganglio ma and phaeochromocytoma. (PubMed id 20071235)9 Bayley J.P....Robledo M. (2010)
    168. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gas tric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clini cal implications. (PubMed id 19522824)9 Stratakis C.A. and Carney J.A. (2009)
    169. Sdhd and SDHD/H19 knockout mice do not develop paraga nglioma or pheochromocytoma. (PubMed id 19956719)9 Bayley J.P....Taschner P.E. (2009)
    170. Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. (PubMed id 19432956)9 Hensen E.F....Cornelisse C.J. (2009)
    171. Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas. (PubMed id 17102089)9 Dahia P.L. (2006)
    172. Familial nonsyndromic pheochromocytoma. (PubMed id 17102081)9 Opocher G....Mantero F. (2006)
    173. Frequent genetic changes in childhood pheochromocytomas. (PubMed id 17102083)9 De Krijger R.R....Dinjens W.N. (2006)
    174. Multiparameter DNA flow-sorting demonstrates diploidy and SDHD wild-type gene retention in the sustentacular cell compartment of head and neck paragangliomas: chief cells are the only neoplastic component. (PubMed id 15095273)9 Douwes Dekker P.B....Cornelisse C.J. (2004)
    175. The genetic basis of pheochromocytoma. (PubMed id 14674304)9 Gimm O....Neumann H.P. (2004)
    176. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. (PubMed id 14595761)9 Douwes Dekker P.B....Cornelisse C.J. (2003)
    177. The pressure rises: update on the genetics of phaeochromocytoma. (PubMed id 12351569)9 Maher E.R. and Eng C. (2002)
    178. Cytopathies involving mitochondrial complex II. (PubMed id 12231007)9 Ackrell B.A. (2002)
    179. (PubMed id 17928783)9 
    180. Mutations of the metabolic genes IDH1, IDH2, and SDHA F2 are not major determinants of the pseudohypoxic phenotype of sporadic pheoch romocytomas and paragangliomas. (PubMed id 20130071)9 Yao L....Dahia P.L. (2010)
    181. Phaeochromocytoma: state-of-the-art. (PubMed id 20514823)9 Donckier J.E. and Michel L. (2010)
    182. SDHD-related chromaffin tumours: disease localisation to genetic dysfunction. (PubMed id 20190551)9 Srirangalingam U....Drake W.M. (2010)
    183. Paraganglioma syndrome type 1 in a patient with Carne y-Stratakis syndrome. (PubMed id 20098451)9 Ayala-Ramirez M....Jimenez C. (2010)
    184. A large deletion in the succinate dehydrogenase B gen e (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant met astasis. (PubMed id 20379037)9 Kodama H....Takekoshi K. (2010)
    185. Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. (PubMed id 19411806)9 Ercolino T....Bernini G.P. (2009)
    186. [Research advances in molecular biology of carotid body tumor.] (PubMed id 19418004)9 Zhou Q. and Zheng J.W. (2009)
    187. Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis. (PubMed id 19261994)9 Saito T....Takekoshi K. (2009)
    188. Familial pheochromocytoma. (PubMed id 19269919)9 Erlic Z. and Neumann H.P. (2009)
    189. SDH mutations in tumorigenesis and inherited endocrin e tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. (PubMed id 19522823)9 Pasini B. and Stratakis C.A. (2009)
    190. Carney triad in an adult with aggressive behavior: th e first case in Korea. (PubMed id 19881977)9 Song H.J....Park C.K. (2009)
    191. Local-regional recurrence of sporadic or syndromic ab dominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. (PubMed id 19958924)9 Van Slycke S....Pattou F. (2009)
    192. Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging. (PubMed id 19233206)9 Huang J. and Lemire B.D. (2009)
    193. No evidence for promoter region methylation of the su ccinate dehydrogenase and fumarate hydratase tumour suppressor genes in breast cancer. (PubMed id 19778456)9 Huang K.T....Fox S.B. (2009)
    194. Multiple endocrine neoplasias: advances and challenge s for the future. (PubMed id 19522821)9 Alevizaki M. and Stratakis C.A. (2009)
    195. Pigmented 'black' cardiac paraganglioma in a patient with a novel germ-line SDHD mutation. (PubMed id 19027316)9 Petramala L....Letizia C. (2009)
    196. Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity. (PubMed id 19145771)9 Persu A....Vikkula M. (2009)
    197. [Pheochromocytoma: diagnosis and treatment] (PubMed id 19899721)9 WidimskA1 J....Holaj R. (2009)
    198. The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. (PubMed id 19368708)9 Bayley J.P....Weiss M.M. (2009)
    199. Screening for familial paragangliomas. (PubMed id 17936061)9 Myssiorek D....Rinaldo A. (2008)
    200. Sporadic paraganglioma. (PubMed id 18224469)9 Lee J.A. and Duh Q.Y. (2008)
    201. [Achievements of the COMETE program in the genetics of pheochromocytoma] (PubMed id 18663985)9 Gimenez-Roqueplo A.P....Plouin P.F. (2008)
    202. [The sympathetic system and neuroendocrine hypertension] (PubMed id 18350500)9 Zuccala' A....Rapana' R. (2008)
    203. Cells silenced for SDHB expression display characteristic features of the tumor phenotype. (PubMed id 18519664)9 Cervera A.M....McCreath K.J. (2008)
    204. SDHC mutation in an elderly patient without familial antecedents. (PubMed id 18681855)9 Lopez-Jimenez E....Cascon A. (2008)
    205. Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations. (PubMed id 18031321)9 Ercolino T....Mannelli M. (2008)
    206. Cervical paragangliomas: is SDH genetic analysis systematically required? (PubMed id 17987308)9 Fakhry N....Zanaret M. (2008)
    207. Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report. (PubMed id 18213727)9 Papaspyrou K....Helling K. (2008)
    208. Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. (PubMed id 18307724)9 Gimenez-Roqueplo A.P....Plouin P.F. (2008)
    209. R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. (PubMed id 18362451)9 Takekoshi K....Yamada N. (2008)
    210. Systematic screening and treatment evaluation of here ditary neck paragangliomas. (PubMed id 17563904)9 Fish J.H....Fraedrich G. (2007)
    211. Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. (PubMed id 17898811)9 Zbuk K.M....Eng C. (2007)
    212. Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinate. (PubMed id 17636259)9 Szeto S.S....Lemire B.D. (2007)
    213. A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. (PubMed id 17406045)9 Ma R.C....Cockram C.S. (2007)
    214. Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA. (PubMed id 17376234)9 Baysal B.E....Ferrell R.E. (2007)
    215. Pheochromocytoma: an update on genetics and management. (PubMed id 18045948)9 Karagiannis A....Harsoulis F. (2007)
    216. A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia. (PubMed id 17487275)9 Baysal B.E. (2007)
    217. [Diagnostic and therapeutic procedures in pheochromocytoma: current trends] (PubMed id 17578179)9 WidimskA1 J....Holaj R. (2007)
    218. Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene. (PubMed id 17466010)9 Recasens M....Ricart W. (2007)
    219. [Head and neck paragangliomas: revision of 89 cases in 73 patients] (PubMed id 17371691)9 Sevilla GarcA-a M.A....SuA!rez Nieto C. (2007)
    220. Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor. (PubMed id 16741618)9 Nemoto H....Sanada Y. (2006)
    221. Genetic testing in pheochromocytoma: increasing importance for clinical decision making. (PubMed id 17102076)9 Bornstein S.R. and Gimenez-Roqueplo A.P. (2006)
    222. An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years. (PubMed id 16472267)9 Elston M.S....Conaglen J.V. (2006)
    223. Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. (PubMed id 16954163)9 Pollard P.J....Maher E.R. (2006)
    224. Tumours of familial origin in the head and neck. (PubMed id 16857415)9 Suarez C....Rinaldo A. (2006)
    225. The malignant potential of a succinate dehydrogenase subunit B germline mutation. (PubMed id 16699302)9 Fuentes C....Neumann H.P. (2006)
    226. [Hereditary paragangliomas and pheochromocytomas] (PubMed id 17373214)9 Gimenez-Roqueplo A.P. (2006)
    227. Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence. (PubMed id 16330941)9 Perry C.G....Carney J.A. (2006)
    228. Recent advances in the diagnosis and treatment of pheochromocytoma. (PubMed id 17119341)9 WidimskA1 J. (2006)
    229. Characteristic genomic imbalances in pediatric pheochromocytoma. (PubMed id 16518846)9 Hering A....Loncarevic I. (2006)
    230. Genetic testing in pheochromocytoma- and paraganglioma-associated syndromes. (PubMed id 17102077)9 Benn D.E....Robinson B.G. (2006)
    231. Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot? (PubMed id 16258955)9 Cascon A....Robledo M. (2006)
    232. Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas. (PubMed id 15788647)9 Margetts C.D....Maher E.R. (2005)
    233. cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma. (PubMed id 16061554)9 Takahashi M....Kanayama H.O. (2005)
    234. New genetic causes of pheochromocytoma: current concepts and the clinical relevance. (PubMed id 15832076)9 Neumann H.P....Murai M. (2005)
    235. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. (PubMed id 16103922)9 Dahia P.L....Stiles C.D. (2005)
    236. A common pathway for genetic events leading to pheochromocytoma. (PubMed id 16098460)9 Maxwell P.H. (2005)
    237. [Genetics of endocrine tumours] (PubMed id 16735973)9 Calender A....Zhang C.X. (2005)
    238. Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. (PubMed id 15883705)9 Opocher G....Mantero F. (2005)
    239. Mitochondrial tumour suppressors: a genetic and biochemical update. (PubMed id 16327764)9 Gottlieb E. and Tomlinson I.P. (2005)
    240. Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas. (PubMed id 15762191)9 van Houtum W.H....Romijn J.A. (2005)
    241. Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor. (PubMed id 15719371)9 Elder E.E....Larsson C. (2005)
    242. New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. (PubMed id 16001332)9 Bertherat J. and Gimenez-Roqueplo A.P. (2005)
    243. Flutolanil and carboxin resistance in Coprinus cinereus conferred by a mutation in the cytochrome b560 subunit of succinate dehydrogenase complex (Complex II). (PubMed id 15365819)9 Ito Y....Yanagi S.O. (2004)
    244. Carotid body tumors in humans caused by a mutation in the gene for succinate dehydrogenase D (SDHD). (PubMed id 15602946)9 Dahan A....Cornelisse C.J. (2004)
    245. K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma. (PubMed id 15473885)9 McDonnell C.M....Zacharin M.R. (2004)
    246. Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG. (PubMed id 16982587)9 Lawrence J.K....Grossman A.B. (2004)
    247. The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features. (PubMed id 15235042)9 Badenhop R.F....Schofield P.R. (2004)
    248. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. (PubMed id 14685938)9 Vanharanta S....Eng C. (2004)
    249. [Paraganglioma in the area of the head and neck. A review of molecular genetic research] (PubMed id 14740109)9 Braun S....Kupka S. (2004)
    250. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. (PubMed id 14643060)9 Baysal B.E. (2003)
    251. Alterations of the SDHD gene locus in midgut carcinoids. (PubMed id 12619155)9 Lima J....Sobrinho-Simoes M. (2003)
    252. The tumor suppressor cybL, a component of the respiratory chain, mediates apoptosis induction. (PubMed id 12925748)9 Albayrak T....Grimm S. (2003)
    253. Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma. (PubMed id 14974911)9 Opocher G....Mostacciuolo M.L. (2003)
    254. Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. (PubMed id 14557473)9 McWhinney S.R....Eng C. (2003)
    255. 18F-DOPA positron emission tomography for the detection of glomus tumours. (PubMed id 12618904)9 Hoegerle S....Neumann H.P. (2003)
    256. Pheochromocytoma: the expanding genetic differential diagnosis. (PubMed id 12928344)9 Bryant J....Nathanson K.L. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6392 HGNC: 10683 AceView: SDHDandTEX12 Ensembl:ENSG00000204370 euGenes: HUgn6392
    ECgene: SDHD Kegg: 6392 H-InvDB: SDHD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SDHD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDHD Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHD
    Wikipedia http://en.wikipedia.org/wiki/SDHD
    TCA Cycle Gene Mutation Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SDHD gene:
    Search GeneIP for patents involving SDHD

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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