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SDHC Gene

protein-coding   GIFtS: 62

GC01P159550
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
(Previous names: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PGL3)
Services    

Aliases &
Descriptions
for SDHC

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CYB560 2, 3
CYBL 2, 3
OTTHUMP00000032375 2
PGL3 2, 5
QPS1 2
QPs-1 3
QPs1 3
SDH3 2, 3
Descriptions
Integral membrane protein CII-3 2, 3
Succinate dehydrogenase complex subunit C 3
Succinate-ubiquinone oxidoreductase cytochrome B large
subunit 3
cytochrome B large subunit of complex II 2
integral membrane protein CII-3b 2
succinate dehydrogenase complex, subunit C 2
succinate dehydrogenase complex, subunit C, integral
membrane protein, 15kD 1
succinate dehydrogenase complex, subunit C, integral
membrane protein, 15kDa 2
succinate dehydrogenase cytochrome b560 subunit 2
succinate-ubiquinone oxidoreducatase cytochrome B large
subunit 2
External Ids
HGNC: 106821
Entrez Gene: 63912
UniProtKB: Q996433
Ensembl: ENSG000001432527
Search outside databases for aliases for SDHC gene

Previous GC identifers: GC01P158995 GC01P157016 GC01P158061 GC01P158500 GC01P158097

Summaries
for SDHC

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

 EntrezGene summary for SDHC:
This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also
known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and
aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane
proteins that anchor other subunits of the complex, which form the catalytic core, to the inner
mitochondrial membrane. Several related pseudogenes are located in different genomic regions.
Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript
variants encoding different isoforms have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
Function: Mono-heme cytochrome b. May act as a mediator of low potential couples in an electron
flow through cardiac complex II. Is involved in system II of the mitochondrial electron transport
chain which is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q)

Genomic Location
for SDHC

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SDHC gene  

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q21

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

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P159550:     (about GC identifiers)

Start:
 159,550,790 bp from pter
End:
 159,601,165 bp from pter
Size:
 50,376 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  

Proteins
for SDHC

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: C560_HUMAN, Q99643 (See protein sequence)
Recommended Name: Succinate dehydrogenase cytochrome b560 subunit, mitochondrial precursor  
Size: 169 amino acids; 18610 Da
Subunit: Forms part of complex II containing four subunits: a 70 kDa flavoprotein (FP), a 27 kDa
iron-sulfur protein (IP), and two other membrane-anchoring proteins, QPS1 (CII-3) and QPS2 (CII-4)
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein

REFSEQ proteins (4 alternative transcripts): 
NP_001030588.1  NP_001030589.1  NP_001030590.1  NP_002992.1  


ENSEMBL proteins: 
ENSP00000356952 ENSP00000356953 ENSP00000376009 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (SDHC)
Human Recombinant Proteins from Abnova (SDHC)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion TAS2302193
GO:0005743 mitochondrial inner membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane TAS9533030
GO:0045273 respiratory chain complex II TAS9533030
About this table

Antibodies for SDHC: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for SDHC
Browse R&D Systems for Antibodies
Antibodies from Abcam (SDHC), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (SDHC)
Novus Biologicals Antibodies for SDHC

Assays for SDHC: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for SDHC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
4 InterPro domains/families:
 IPR018495 Succ_DH_cyt_bsu_CS
 IPR014361 Succ_DH_cytb560
 IPR000701 Succ_DH_cyt_bsu
 IPR014314 Succ_DH_cytb556


   GeneDecks  SDHC for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q99643

ProtoNet protein and cluster: Q99643

1 Blocks protein family: IPB000701 Succinate dehydrogenase

UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
Similarity: Belongs to the cytochrome b560 family

Gene Function
for SDHC

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (SDHC)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SDHC)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003001

              Applied Biosystems Silencer® siRNAs for SDHC

              Sigma-Aldrich siRNA for SDHC  
                     Sigma-Aldrich shRNA for SDHC  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for SDHC
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001035511
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001035511
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001035511 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_003001

UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
Function: Mono-heme cytochrome b. May act as a mediator of low potential couples in an electron
flow through cardiac complex II. Is involved in system II of the mitochondrial electron transport
chain which is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q)

Genatlas biochemistry entry for SDHC:
succinate dehydrogenase,cyb L subunit,liver,inner mitochondrial membrane,component 3 of complex II
of mitochondrial respiratory chain (CII-3),oxidative phosphorylation,(OXPHOS),also catalyzing the
seventh step of the citric acid cycle

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000104 succinate dehydrogenase activity IEA--
GO:0005506 iron ion binding IEA--
GO:0009055 electron carrier activity IEA--
GO:0046872 metal ion binding IEA--
About this table

Pathways & Interactions
for SDHC

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for SDHC (Maps provided by GeneGo):
 Citric acid cycle (citrate cycle

   GeneDecks  SDHC for the pathways selected above  
About GeneDecksing

4 Sigma-Aldrich "Your Favorite Gene" Pathways for  SDHC  (Your Favorite Gene powered by Ingenuity) 
 Mitochondrial Dysfunction
 Oxidative Phosphorylation
 Butanoate Metabolism
 Citrate Cycle

   GeneDecks  SDHC for the pathways selected above  
About GeneDecksing

5 Kegg Pathways  (Kegg details for SDHC):
 hsa00020 Citrate cycle (TCA cycle)
 hsa00190 Oxidative phosphorylation
 hsa05010 Alzheimer's disease
 hsa05012 Parkinson's disease
 hsa05016 Huntington's disease

   GeneDecks  SDHC for the pathways selected above  
About GeneDecksing
UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
Pathway: Carbohydrate metabolism; tricarboxylic acid cycle


5/22 Interacting proteins for SDHC (ENSP000003569533) via UniProtKB, MINT, and/or STRING (see all 22 )

InteractantInteraction Details
GeneCardExternal ID(s)
SDHBENSP000003646493STRING (score=.999)
SDHDENSP000003646993STRING (score=.999)
SUCLG1ENSP000002957833STRING (score=.914)
UQCRBENSP000002870223STRING (score=.913)
CYC1ENSP000003171593STRING (score=.907)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006099 tricarboxylic acid cycle TAS9533030
GO:0006810 transport IEA--
GO:0022900 electron transport chain IEA--
About this table

Drugs & Compounds
for SDHC

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SDHC
6 Novoseek chemical compound relationships for SDHC gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
polyethylenimine 52.87 10 18260146 (2), 15820411 (1), 14499197 (1)
iron-sulfur 52.14 3 11692162 (1), 15989954 (1), 16288654 (1)
oxygen 13.10 3 12925748 (1), 17487275 (1), 17376234 (1)
superoxide 7.54 2 16885361 (1), 17250422 (1)
cholesterol 0.00 1 10864036 (1)
steroid 0.00 1 16116793 (1)
About this table


Transcripts
for SDHC

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (SDHC)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SDHC)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_003001

              Sigma-Aldrich siRNA for SDHC  
                     Sigma-Aldrich shRNA for SDHC  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001035511  NM_001035512  NM_001035513  NM_003001  

REFSEQ mRNAs for SDHC gene (4 alternative transcripts): 

NM_001035511.1   NM_001035512.1   NM_001035513.1   NM_003001.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001035511  NM_001035512  NM_001035513  NM_003001  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001035511
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001035511
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001035511 

Additional cDNA sequence: 

AB201252.1 AB211234.1 AB211235.1 AB212048.1 AK131051.1 AK293687.1 AK294305.1 BC012735.2 
BC020808.1 BC033626.1 BC066329.1 CR457102.1 CR591478.1 CR594069.1 CR594901.1 CR597554.1 
CR602016.1 CR606805.1 CR608606.1 CR613513.1 CR614683.1 CR618151.1 CR621523.1 D49737.1 
U57877.1 XM_001713656.1 

19 DOTS entries:

DT.451616  DT.100684063  DT.91874090  DT.100819962  DT.95343082  DT.100819963  DT.100819971  DT.121417224 
DT.100819957  DT.91980783  DT.40106418  DT.92443541  DT.92443542  DT.100819972  DT.100819958  DT.92443537 
DT.92443539  DT.100799910  DT.95094401 

24/402 AceView cDNA sequences (see all 402 ):

AA206797 BU175211 AI050964 AI312073 D11584 CR606805 AL597260 AA653239 
CR597554 AA062805 CR621523 AA659694 AA935674 AL540947 AA205180 AA983712 
BU620970 AI127729 CR591478 CR594069 CA488345 AW779516 AA687908 AI694167 

highest scoring ESTs for SDHC:

U57877 AA062805 AA169818 AA171467 AA206376 AA206797 AA227037 AA331033 AA341729 AA354496 

Unigene Cluster for SDHC:

Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
Hs.444472  [show with all ESTs]
Unigene Representative Sequence: NM_003001


GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:
ENST00000342751  ENST00000367975  ENST00000392169  

Expression
for SDHC

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SDHC expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SDHC

1 / 2 / 3

11 probe-sets matching SDHC gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

34385_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U57877 1.00 1.00 1.00 1

215088_s_at2, 3 U133-A 1 1.00 1.00 -- -- BG110532 0.40 0.67 0.55 1

238056_at2, 3 U133-B 1 1.00 1.00 -- -- AW183074 0.60 1.00 0.82 1

210131_x_at2, 3 U133-A 1 1.00 1.00 -- -- D49737 0.80 1.00 0.91 1

202004_x_at2, 3 U133-A 1 1.00 1.00 -- -- NM_003001 0.60 1.00 0.82 1

216591_s_at2 U133-A 5 1.00 0.34 -- -- -- -- -- -- --

215088_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

238056_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

210131_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

202004_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

216591_s_at2 U133Plus2 5 1.00 0.34 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.444472

Expression variation in blood from EXPOLDB for SDHC

Orthologs
for SDHC

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for SDHC gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 SDHC1   -- succinate dehydrogenase complex, subunit C, integral more 91.32(n)
91.72(a)		 478983  XM_536140.2  XP_536140.1 
chimpanzee
(Pan troglodytes)		 SDHC1   -- succinate dehydrogenase complex, subunit C, integral more 80.08(n)
77.51(a)		 747462  XM_001173993.1  XP_001173993.1 
cow
(Bos taurus)		 SDHC1   -- succinate dehydrogenase complex, subunit C, integral more 90.93(n)
89.94(a)		 327696  NM_175814.2  NP_787008.1 
rat
(Rattus norvegicus)		 Sdhc1   -- succinate dehydrogenase complex, subunit C, integral more 83.43(n)
82.25(a)		 289217  NM_001005534.1  NP_001005534.1 
mouse
(Mus musculus)		 Sdhc1, 5 15
 succinate dehydrogenase complex, subunit C, integral more1, 5 83.43(n)1
79.29(a)1		 660521  NM_025321.21  NP_079597.11 
 AI3164965  AK0024595  (see all 15)
About this table        Species with no ortholog for SDHC

ENSEMBL Gene Tree for SDHC

Paralogs
for SDHC

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Pseudogenes
4 related pseudogenes


SNPs/Variants
for SDHC

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


8 NCBI SNPs in SDHC are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs39354011,2
A,C,F,H159600182(-) ACAGAT/CGAGAT 4 -- ut317Minor allele frequency- C:0.15NA EU EA WA 560
rs46000631,2
A,C,F,H159599815(+) ACAGAA/GAAGCC 4 -- ut31 ese37Minor allele frequency- G:0.15NA EU EA WA 562
rs168328591,2
C,F,H159599872(+) CTTTTG/TGGTTA 4 -- ut317Minor allele frequency- T:0.04NA EU EA WA 556
--
rs340672161,2
--159600028(+) TAGAG-/ATTTTT 4 -- ut310--------
--
rs18025131,2
--159599469(+) AAGATC/TTAGAA 4 -- ut310--------
--
rs355193011,2
--159600548(+) CAATG-/TATAAA 4 -- ut310--------
--
rs727149861,2
--159600170(+) AATAAA/GAGACT 4 -- ut310--------
--
rs57782061,2
--159600126(+) AGGCT-/TTAGCAG 4 -- ut310--------
About this table
The following additional 103 SNP(s) have been found in Applied Biosystems data source:
(Click for Applied Biosystems TaqMan ® Genotyping Assay)


 rs4634927 rs11265589 rs12730813 rs10157093 rs6684273 rs16832809 rs16832851
 rs10494352 rs12745115 rs12069801 rs16832871 rs16832820 rs4131826 rs16832786
 rs10494351 rs12745476 rs3813630 rs36097930 rs35064604 rs28703151 rs12144150
 rs16832849 rs16832869 rs12064957 rs16832887 rs16832824 rs12140361 rs12239492
 rs16832790 rs11585941 rs12038724 rs16832801 rs7547940 rs4255403 rs9970904
 rs16832897 rs1133806 rs4077290 rs16832872 rs12065184 rs16832793 rs6697729
 rs16832894 rs4291521 rs34307129 rs3813631 rs16832842 rs16832823 rs16832811
 rs16832884 rs7551761 rs12239719 rs34779243 rs12731474 rs7415671 rs4596919
 rs10494354 rs12135397 rs4474277 rs16832900 rs35966414 rs11265587 rs7531561
 rs17398689 rs16832874 rs4481873 rs6682046 rs12122313 rs13374037 rs4656297
 rs61458643 rs41270861 rs17394957 rs17395595 rs4072409 rs6674383 rs16832847
 rs11579939 rs16832835 rs12097837 rs17348095 rs4319356 rs7550839 rs4590682
 rs16832826 rs4272646 rs7532602 rs4463689 rs5022335 rs16832892 rs16832854
 rs28524812 rs1133805 rs10494353 rs16832883 rs16832813 rs7554208 rs4255402
 rs10494350 rs17399583 rs4622080 rs12030219 rs9330294

HapMap Linkage Disequilibrium images for SDHC (up to first 250kb)

Disorders & Mutations
for SDHC

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 602413   disorders: 605373  606864  

UniProtKB/Swiss-Prot: C560_HUMAN, Q99643

  • Defects in SDHC are the cause of autosomal dominant non-chromaffin paragangliomas type 3
    (PGL3) [MIM:605373]. Non-chromaffin paragangliomas are usually benign, neural crest derived tumors
    of parasympathetic ganglia
  • Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma [MIM:606864];
    also called Carney-Stratakis syndrome. 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

    • 10/19 Novoseek disease relationships for SDHC gene (see all 19 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraganglioma 95.21 79 17102086 (4), 16405730 (4), 11897817 (3), 16249420 (3) (see all 57)
    pheochromocytoma 86.51 42 16249420 (4), 16405730 (3), 17102086 (2), 18212813 (2) (see all 27)
    carotid body tumor 79.46 3 16249420 (1), 12381538 (1)
    multiple endocrine neoplasia 72.29 1 15531530 (1)
    von hippel-lindau disease 70.55 2 16001332 (1), 18045948 (1)
    neurofibromatosis type 1 59.12 2 16001332 (1), 18045948 (1)
    genetic susceptibility 45.77 3 18978332 (1), 17298303 (1), 14974914 (1)
    multiple endocrine neoplasia type 1 44.99 1 18045948 (1)
    germ-line mutation 42.84 2 19223516 (1), 17487275 (1)
    tumors 42.67 27 12925748 (2), 17967865 (2), 12384970 (1), 17041923 (1) (see all 23)
    About this table

    GeneTests: SDHC
    Hereditary Paraganglioma-Pheochromocytoma Syndromes

    Human Gene Mutation Database: SDHC
    Genetic Association Database: SDHC
    Human Genome Epidemiology Navigator: SDHC (13 documents)

    Medical News
    for SDHC

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for SDHC

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

    		10/162 PubMed articles for SDHC gene (see all 162 ):

    Search for SDHC

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SDHC

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 6391 HGNC: 10682 AceView: SDHC Ensembl:ENSG00000143252 euGenes: HUgn6391
    ECgene: SDHC H-InvDB: SDHC

    Other Databases showing SDHC

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing SDHC

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for SDHC Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.genetests.org/query?gene=SDHC
    Wikipedia http://en.wikipedia.org/wiki/SDHC_%28gene%29

    Licensable Technologies
    for SDHC

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for SDHC

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SDHC:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for SDHC-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
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     "Your Favorite Gene" Pathwaysfeedback


      
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for SDHC

    GeneCards Homepage    -    Last full update: 1 Jul 2009        Incremental update: 13 Oct 2009

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