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.
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Protein Aliases: PDHE1-A type I; pyruvate dehydrogenase; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase E1 subunit
Gene Aliases: PDHA; PDHA1; PDHAD; PDHCE1A; PHE1A
UniProt ID: (Human) P08559
Entrez Gene ID: (Human) 5160
Molecular Function: dehydrogenase