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Overview
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Gene Accession: BC002406
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Background
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).
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