PDHA1(Pyruvate dehydrogenase E1 component subunit alpha,somatic form,mitochondrial) is also named as PHE1A.It is one of the 3 enzymes of the pyruvate dehydrogenase complex which is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA.It has 4 isoforms produced by alternative splicing.Defects in PDHA1 are a cause of pyruvate dehydrogenase E1-alpha deficiency (PDHAD) and X-linked Leigh syndrome (X-LS).
