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SDHA is 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.
Gene Name: | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
Synonyms: | SDHA, SDH1, PGL5, SDHF, CMD1GG, FP, SDH2 |
Target Sequences: | NM_004168 NP_004159.2 P31040 |
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