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 E1 Alpha 1 Subunit) is a Protein Coding gene. Diseases associated with PDHA1 include Pyruvate Dehydrogenase E1-Alpha Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and pyruvate dehydrogenase activity. An important paralog of this gene is PDHA2.
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.