Aliases for PDHA1 Gene
External Ids for PDHA1 Gene
Previous HGNC Symbols for PDHA1 Gene
Previous GeneCards Identifiers for PDHA1 Gene
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]
GeneCards Summary for PDHA1 Gene
PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1) is a Protein Coding gene. Diseases associated with PDHA1 include pyruvate dehydrogenase e1-alpha deficiency and x-linked leigh syndrome. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity and pyruvate dehydrogenase activity. An important paralog of this gene is BCKDHA.
UniProtKB/Swiss-Prot for PDHA1 Gene
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.