Entrez gene ID | | 5160 |
Official gene symbol | | PDHA1 |
Full name | | pyruvate dehydrogenase (lipoamide) alpha 1 |
Aliases | | ,PDHA,PDHCE1A,PHE1A, |
Gene summary | | 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. |
Location | | Chromosome: X Locus: Xp22.2-p22.1 |
Gene position | | 19362011 - 19379825 Map Viewer |
Gene orientation | | plus |
Gene size | | 17815 bp |
Gene sequence |
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OMIM ID | | 300502 |
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