PDHA1

Also known as PDHA, PDHCE1A, PHE1A, PDHAD, Pyruvate dehydrogenase (lipoamide) alpha 1, pyruvate dehydrogenase alpha 1, pyruvate dehydrogenase E1 alpha 1 subunit, pyruvate dehydrogenase E1 subunit alpha 1

protein-coding gene in the species Homo sapiens

Gene data

PDHA1

Name: pyruvate dehydrogenase E1 subunit alpha 1
Type: protein-coding
Chromosome: X
Aliases: E1alpha, PDHA, PDHAD, PDHCE1A, PHE1A

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].

via MyGene.info