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.
Aliases： PDHA; PDHAD; PHE1A; PDHCE1A
Entrez GeneID： 5160
Swissprot ： P08559
WB Predicted band size： 43.3kDa
Host/Isotype ： Mouse IgG2b
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human PDHA1 (AA: 241-390) expressed in E. Coli.
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