SDHA Gene
protein-coding GIFtS: 65
GCID: GC05P000208
|
|
succinate dehydrogenase complex, subunit A, flavoprotein...
(Previous symbol: SDH2)
| |
Aliases
for SDHA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp)1 2 | | CMD1GG2 5 | | SDHF1 2 3 5 | | SDH12 5 | | SDH21 2 3 | | PGL52 | | FP1 2 | | Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial2 | | Flavoprotein Subunit Of Complex II2 3 | | Succinate Dehydrogenase Complex Flavoprotein Subunit2 | | EC 1.3.5.13 8 | | Fp3 |
Export aliases for SDHA gene to outside databasesPrevious GC identifers: GC05P000259 GC05P000271 |
Summaries
for SDHA gene(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 SDHA:
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrialrespiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrialinner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiencyknown as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040Function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of themitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone(coenzyme Q). Can act as a tumor suppressor
Gene Wiki entry for SDHA
|
Genomic Views
for SDHA 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006576.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SDHA gene promoter:
GATA-3 p53 Brachyury ATF-2 FOXD3 CUTL1 Ik-3 Evi-1 HOXA5 CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for SDHA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5p15 Ensembl cytogenetic band: 5p15.33 HGNC cytogenetic band: 5p15SDHA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P000208: view genomic region
(about GC identifiers)
Start:
|
218,356 bp from pter |
End:
|
256,815 bp from pter |
Size:
|
38,460 bases |
Orientation:
|
plus strand |
|
Proteins
for SDHA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040 (See
protein sequence)Recommended Name: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor Size: 664 amino acids; 72692 Da
Cofactor: FAD
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. Interacts with SDHAF2/SDH5; interaction is required for FADattachment
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Miscellaneous: The complex, present in mitochondria, can be degraded to form EC 1.3.99.1, which no longer reacts withubiquinone
Sequence caution: Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown;
Secondary accessions: A8K5J6 Q16395 Q9UMY5Explore the universe of human proteins at neXtProt for SDHA: NX_P31040
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P31040
4/26 DME Specific Peptides for SDHA (P31040) (see all 26)
SDHA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004159.2
ENSEMBL proteins: ENSP00000264932 ENSP00000426514 ENSP00000427703 ENSP00000425077 ENSP00000422404 ENSP00000421911 Reactome Protein details: P31040
Human Recombinant Protein Products for SDHA:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SDHA for ontologies About GeneDecksing
SDHA Antibody Products:
Assay Products for SDHA: |
Protein
Domains /
Families
for SDHA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SDHA for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P31040ProtoNet protein and cluster: P31040 1 Blocks protein family: IPB003952 Fumarate reductase/succinate dehydrogenase
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040Similarity: Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily |
Function
for SDHA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DHSA_HUMAN, P31040Function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of themitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone(coenzyme Q). Can act as a tumor suppressorCatalytic activity: Succinate + ubiquinone = fumarate + ubiquinol Genatlas biochemistry entry for SDHA:succinate dehydrogenase,flavoprotein,inner mitochondrial membrane,component,70kDa,of complex II of mitochondrialrespiratory chain,oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle
Enzyme Number (IUBMB): EC 1.3.5.11 2
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000104 | contributes to succinate dehydrogenase activity |
IMP | 7550341 | | GO:0005515 | protein binding |
IPI | 19688755 | | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
IEA | -- | | GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors |
-- | -- | | GO:0050660 | flavin adenine dinucleotide binding |
IEA | -- |
SDHA for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for SDHA:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SDHA (NM_004168) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SDHA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHA |
|
Pathways & Interactions
for SDHA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | TCA Cycle | | | 3 | Metabolism | | | 4 | TCA cycle II (eukaryotic) | | | 5 | Glucose / Energy Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for SDHA
3  BioSystems Pathways for SDHA
5/6 
Reactome Pathways for SDHA (see all 6)
5/6 
Kegg Pathways (Kegg details for SDHA) (see all 6):
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1
SDHA for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SDHA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 21)
5/84 Interacting proteins for SDHA (P310401, 2, 3 ENSP000002649324) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
SDHA for ontologies About GeneDecksing
|
Drugs & Compounds
for SDHA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SDHA for compounds About GeneDecksing
 Browse Tocris compounds for SDHA
9 HMDB Compounds for SDHA About this table
5 DrugBank Compounds for SDHA About this table
8 Novoseek chemical compound relationships for SDHA gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| succinate |
86.9 |
32 |
9467555 (3), 10199764 (2), 17376234 (2), 11404820 (1) (see all 25) |
| iron-sulfur |
76.4 |
8 |
11692162 (1), 8161512 (1), 10799306 (1), 9533030 (1) (see all 8) |
| glyceraldehyde 3-phosphate |
58.7 |
4 |
17026756 (1), 19036168 (1), 17324259 (1), 18460208 (1) |
| ubiquinone |
42.4 |
1 |
15989954 (1) |
| flavin |
38.2 |
3 |
12699430 (1), 7798181 (1) |
| nadh |
31.5 |
9 |
8161512 (1), 15250765 (1), 9396029 (1) |
| nad+ |
26.7 |
2 |
15250765 (1), 9396029 (1) |
| oxygen |
0 |
2 |
11692162 (1), 17376234 (1) |
Search CenterWatch for drugs/clinical trials and news about SDHA / DHSA
|
Transcripts
for SDHA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SDHA gene: NM_004168.2 Unigene Cluster for SDHA: Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) Hs.440475 [show with all ESTs]Unigene Representative Sequence: NM_00416818/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21): ENST00000264932(uc003jao.4 uc011clw.2 uc021xvu.1) ENST00000504309
ENST00000506138 ENST00000502379 ENST00000505555(uc011clv.1) ENST00000510361
ENST00000509632 ENST00000504824 ENST00000509420 ENST00000514027(uc003jaq.4)
ENST00000514233 ENST00000512962 ENST00000515752 ENST00000511810 ENST00000515815
ENST00000509082 ENST00000503674 ENST00000507266
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SDHA (NM_004168) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SDHA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHA |
Additional cDNA sequence: AB208991.1 AK094879.1 AK225027.1 AK291311.1 AK295937.1 AK302524.1 BC001380.2 BC004328.1 BC041016.1 D30648.1 L21936.1 24/38 DOTS entries (see all 38): DT.95100115 DT.97817039 DT.454057 DT.100879599 DT.120852151 DT.120852084 DT.92464244 DT.91864402 DT.100879621 DT.102843654 DT.120852170 DT.100879608 DT.120852132 DT.97860756 DT.120852137 DT.95100142 DT.120852102 DT.92464258 DT.100725649 DT.120852080 DT.120852152 DT.120852163 DT.92464266 DT.95100124 24/571 AceView cDNA sequences (see all 571): F06126 BM808232 BP378905 BM853966 AA480637 BX339977 BC001380 BE902398 BU542449 BM826249 BG479336 BX405138 BQ709821 BM679157 BQ009493 AK094879 BQ959961 AA679148 BG823073 BU173959 AI887650 BQ220377 CA502742 CF128727
GeneLoc Exon Structure
|
Expression
for SDHA gene
(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
| SDHA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCATAACTGT
About this image
See SDHA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SDHA
SOURCE GeneReport for Unigene cluster: Hs.440475
SABiosciences Expression via Pathway-Focused PCR Arrays including SDHA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SDHA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SDHA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHA |
Orthologs
for SDHA gene
(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 last universal common ancestor (LUCA).
Orthologs for SDHA gene from 11/41 species (see all 41) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Sdha1 , 5 |
succinate dehydrogenase complex, subunit A, flavoprotein more1, 5 |
86.65(n)1
94.88(a)1 |
|
13 (40.15 cM)5
669451 NM_023281.11 NP_075770.11
743222545 |
chicken
(Gallus gallus) |
Aves |
SDHA1 |
succinate dehydrogenase complex, subunit A, flavoprotein more |
77.96(n)
89.16(a) |
|
395758 XM_419054.3 XP_419054.2 |
lizard
(Anolis carolinensis) |
Reptilia |
SDHA6 |
-- |
89(a) |
1 ↔ 1 |
6(56572378-56594714) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC685182 |
hypothetical protein MGC68518 |
77.65(n) |
|
BC060446.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc560512 |
similar to succinate dehydrogenase complex, subunit more |
77.01(n) |
|
393884 BC045885.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Scs-fp3
SdhA1 |
tricarboxylic acid cycle succinate-CoA
ligase more3
Succinate dehydrogenase A1 |
73(a)
(best of 2)3
68.13(n)1
74.66(a)1 |
|
2 56D33
372281 NM_166344.21 NP_725882.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
C03G5.13
sdha-11 |
succinate dehydrogenase flavoprotein subunit3
Protein SDHA-11 |
72(a)
(best of 2)3
64.52(n)1
73.39(a)1 |
|
X(8578453-8581258)3
1811081 NM_077045.41 NP_509446.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
SDH1(YKL148C)4
YJL045W1 |
Flavoprotein subunit of succinate dehydrogenase (Sdh1p, more4
hypothetical protein1 |
61.79(n)1
68.4(a)1 |
|
11(171129-169207)4
8534051 NP_012490.11 8537094
NP_012774.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
SDH1-11 |
succinate dehydrogenase [ubiquinone] flavoprotein subunit more |
64.04(n)
70.81(a) |
|
836809 NM_126074.2 NP_201477.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.225812 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
73.38(n) |
|
AK099460.1 |
ENSEMBL Gene Tree for SDHA (if available)
TreeFam Gene Tree for SDHA (if available) |
Paralogs
for SDHA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SDHA gene
SDHA for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for SDHA
PGOHUM00000250273 PGOHUM00000250275 PGOHUM00000250313 PGOHUM00000251283
|
Genomic Variants
for SDHA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SDHA (218356 - 256815 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 17 variations for SDHA
17 CNVs (see first 15):
80745 32688 32689 92775 92773 92767 92776 3536 92766 92771 92769 80741 80743 8470 80744
80746 92774
Human Gene Mutation Database (HGMD): SDHA
Locus Specific Mutation Databases (LSDB): SDHA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SDHA |
|
Disorders
/ Diseases
for SDHA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SDHA for disorders About GeneDecksing
OMIM gene information: 600857
OMIM disorders: 256000 252011 613642
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
Defects in SDHA are a cause of mitochondrial complex II deficiency (MT-C2D) [MIM:252011]. A disorder of themitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotorregression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressiveleukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome orKearns-Sayre syndrome Defects in SDHA are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe disorder characterized bybilaterally symmetrical necrotic lesions in subcortical brain regions Defects in SDHA are the cause of cardiomyopathy dilated type 1GG (CMD1GG) [MIM:613642]. CMD1GG is a disordercharacterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure andarrhythmia. Patients are at risk of premature death Defects in SDHA are the cause of paragangliomas type 5 (PGL5) [MIM:614165]. A neural crest tumor usuallyderived from the chromoreceptor tissue of a paraganglion. Paragangliomas are most commonly located in the head andneck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear
20/41  diseases for SDHA (see all 41): About MalaCardsmitochondrial respiratory chain complex ii deficiency von hippel-lindau disease kearns-sayre syndrome seminal vesicle tumor
cardiomyopathy, dilated, 1gg leber hereditary optic neuropathy mitochondrial complex ii deficiency carney triad
neural crest tumor complex partial epilepsy spastic quadriplegia gastrointestinal stromal tumor
quadriplegia eye disease paraganglioma optic atrophy
chondroma neurodegenerative disease acute myocarditis hyperthyroidism
3 diseases from the University of Copenhagen DISEASES database for SDHA:Paraganglioma Leigh disease Seminal vesicle tumor 10/11 Novoseek disease relationships for SDHA gene (see all 11) About this table
Genatlas disease: SDHA lactate acidosis,Leigh syndrome presenting as a leukodystrophy
Human Genome Epidemiology (HuGE) Navigator: SDHA (3 documents)
Export disorders for SDHA gene to outside databases
|
Publications
for SDHA gene (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 SDHA gene, integrated from 9 sources (see all 101):
(articles sorted by number of sources associating them with SDHA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria. (PubMed id 7798181)1, 2, 3, 9 Hirawake H.... Kita K. (1994)
- Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. (PubMed id 12794685)1, 2, 9 Van Coster R.... Lissens W. (2003)
- Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. (PubMed id 10746566)1, 2, 9 Parfait B.... Rustin P. (2000)
- Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. (PubMed id 20551992)1, 2 Levitas A.... Parvari R. (2010)
- SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. (PubMed id 19628817)1, 2 Hao H.-X.... Rutter J. (2009)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (2004)
- 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)
- Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. (PubMed id 7550341)1, 2 Bourgeron T.... Roetig A. (1995)
- The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase. (PubMed id 8142412)1, 2 Morris A.A.M....Birch-MacHin M.A. (1994)
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External Searches for SDHA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing SDHA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing SDHA gene
(According to HUGE)
About This Section
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Specialized Databases showing SDHA gene(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
|
| Name | Description |
| PharmGKB entry for SDHA | Pharmacogenomics, SNPs, Pathways | | TCA Cycle Gene Mutation Database | http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHA | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHA |
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About This Section
| Patent Information for SDHA gene:
Search GeneIP for patents involving SDHA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SDHA gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
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| | |  | OriGene Antibodies for SDHA | | OriGene shRNA RFP for SDHA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SDHA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SDHA | | | OriGene Protein Over-expression Lysate for SDHA | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SDHA | | OriGene 3'-UTR Clone for SDHA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SDHA | | OriGene Custom Protein Services for SDHA | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SDHA | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SDHA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHA | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHA |
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| | Antibodies & Assays for SDHA |
| | | | Search Tocris compounds for SDHA |
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 | | | SDHA Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHA |
|  |  |  |  | | | | ThermoFisher Antibodies for SDHA |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHA |
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