基因名:
SDHA
产品别名:
CMD1GG; FP; MC2DN1; NDAXOA; PGL5; SDH1; SDH2; SDHF; SDHA; succinate dehydrogenase complex flavoprotein subunit A; succinate dehydrogenase complex flavoprotein subunit A; succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; flavoprotein subunit of complex II; succinate dehydrogenase complex, subunit A, flavoprotein (Fp); 琥珀酸脱氢酶复合体A亚基(SDHA); 琥珀酸脱氢酶复合体亚基A;
背景信息:
In aerobic respiration reactions, succinate dehydrogenase (SDH) catalyzes the oxidation of succinate and ubiquinone to fumarate and ubiquinol. Four subunits comprise the SDH protein complex: a flavochrome subunit (SDHA), an iron-sulfur protein (SDHB), and two membrane-bound subunits (SDHC and SDHD) anchored to the inner mitochondrial membrane. Mutations to these subunits cause mitochondrial dysfunction, corresponding to several distinct disorders. Mutations in the membrane bound components may cause hereditary paraganglioma, while SDHA mutations are associated with juvenile encephalopathy as well as Leigh Syndrome, a severe neurological disorder. Inactivating mutations in SDHB correlate with inherited, but not necessarily sporadic, cases of pheochromocytoma.