SDHA succinate dehydrogenase complex flavoprotein subunit A

Gene ID: 6389, updated on 3-Nov-2024
Gene type: protein coding
Also known as: FP; PGL5; SDH1; SDH2; SDHF; PPGL5; CMD1GG; MC2DN1; NDAXOA

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

See all available tests in GTR for this gene

Description	Tests
Dilated cardiomyopathy 1GG MedGen: C3150898OMIM: 613642GeneReviews: Not available	See labs
Mitochondrial complex II deficiency, nuclear type 1 MedGen: C5700310OMIM: 252011GeneReviews: Not available	See labs
Neurodegeneration with ataxia and late-onset optic atrophy MedGen: C5543254OMIM: 619259GeneReviews: Not available	See labs
Paragangliomas 5 MedGen: C3279992OMIM: 614165GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes	See labs

Genomic context

Location:: 5p15.33

Sequence:: Chromosome: 5; NC_000005.10 (218320..268746)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TCA Cycle Gene Mutation Database (SDHA)
Variation Viewer
Related Variants

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