| Gene Symbol |
PDHA1
|
| Gene Synonyms |
E1alpha PDHA Pdha-1 PDHAD PDHCE1A PHE1A |
| Gene Full Name |
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] |
| Alternative Names |
dehydrogenase PDHE1-A type I pyruvate dehydrogenase pyruvate dehydrogenase (lipoamide) alpha 1 pyruvate dehydrogenase alpha 1 pyruvate dehydrogenase alpha subunit precursor (EC 1.2.4.1) pyruvate dehydrogenase complex pyruvate dehydrogenase complex E1-alpha polypeptide 1 pyruvate dehydrogenase E1 alpha 1 pyruvate dehydrogenase E1 alpha 1 subunit pyruvate dehydrogenase E1 component alpha subunit pyruvate dehydrogenase E1-alpha precursor pyruvate dehydrogenase E1alpha subunit |
| Molecular Weight(MW) |
43kDa |
| Source |
Rabbit |
| Cellular Localization |
Mitochondrion matrix |