SDHA succinate dehydrogenase complex flavoprotein subunit A
Gene ID: 6389, updated on 28-Oct-2024Gene type: protein coding
Also known as: FP; PGL5; SDH1; SDH2; SDHF; PPGL5; CMD1GG; MC2DN1; NDAXOA
- See all available tests in GTR for this gene
- Go to complete Gene record for SDHA
- Go to Variation Viewer for SDHA variants
Summary
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Associated conditions
Genomic context
- Location:
- 5p15.33
- Sequence:
- Chromosome: 5; NC_000005.10 (218320..268746)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SDHA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TCA Cycle Gene Mutation Database (SDHA)
- Variation ViewerRelated Variants
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