PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 is a member of the pyruvate dehydrogenase (PDH) complex. PDHA1 is a nuclear-encoded mitochondrial multienzyme complex which 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 . PDHA1 plays a critical role in the brain that usually obtains all of its energy from the aerobic oxidation of glucose (1). Mutations in the PDHA1 are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome (2).
PDHA; PDHCE1A; PHE1A
1. Brown, G. K. et.al: Pyruvate dehydrogenase deficiency. J. Med. Genet. 31: 875-879, 1994.
2. Chun, K. et.al: Mutations in the X-linked E1-alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. Hum. Molec. Genet. 2: 449-454, 1993.
Sample Purity Data. For specific information on a given lot, see related technical data sheet.
Storage, Stability and Shipping:
Store product at –70oC. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
Apoptosis/Autophagy, Inflammation, Metabolic Disorder, Ser/Thr Kinases