基因名：
PDHA1
产品别名：
E1alpha； PDHA； PDHAD； PDHCE1A； PHE1A； PDHA1； pyruvate dehydrogenase E1 subunit alpha 1； pyruvate dehydrogenase E1 subunit alpha 1； pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial； PDHE1-A type I； pyruvate dehydrogenase (lipoamide) alpha 1； pyruvate dehydrogenase E1 alpha 1 subunit； pyruvate dehydrogenase alpha 1； pyruvate dehydrogenase complex, E1-alpha polypeptide 1； 丙酮酸脱氢酶α(PDHA1)； 丙酮酸脱氢酶α1； 磷酸化丙酮酸脱氢酶α1；
背景信息：
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
