| Protein Name | pyruvate dehydrogenase E1 subunit alpha 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5160 |
| Gene Symbol | PDHA1 |
| UniProt | P08559 (ODPA_HUMAN), A0A024RBX9 (A0A024RBX9_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
70
Total Number of Articles : 71 |
Description |
pyruvate dehydrogenase E1 subunit alpha 1 |
| 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.[provided by RefSeq, Mar 2010] |
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