Gene Symbol | SDHA |
Entrez Gene ID | 6389 |
Full Name | succinate dehydrogenase complex flavoprotein subunit A |
Synonyms | CMD1GG,FP,PGL5,SDH1,SDH2,SDHF |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Leigh syndrome, 256000 (3); Mitochondrial respiratory chain complex II deficiency, 252011 (3); Cardiomyopathy, dilated, 1GG, 613642 (3); Paragangliomas 5, 614165 (3) |