Pyruvate dehydrogenase E1 component subunit alpha, mitochondrial (PDHA1)

The pyruvate dehydrogenase E1 alpha subunit is encoded by the PDHA1 gene on the X chromosome. It forms part of the heterotetrameric E1 enzyme (with two alpha and two beta subunits), which catalyzes the critical conversion of pyruvate to acetyl-CoA, initiating the TCA cycle and driving cellular respiration. Mutations in this subunit disrupt mitochondrial energy metabolism, leading to inherited metabolic disorders such as PDC deficiency, characterized by lactic acidosis and neurological symptoms[1][3][7]. It is also mechanistically implicated in cancer cell metabolism and serves as a potential pharmacological target in metabolic modulation therapies[2][7].

Other names

PDH E1 alpha subunitPyruvate dehydrogenase (lipoamide) alpha 1PDHA1E1-alphaODPA_HUMAN

Dichloroacetate: inhibits pyruvate dehydrogenase kinase, thus activating the pyruvate dehydrogenase complex Thiamine supplementation: increases cofactor affinity in deficiency states