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The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine. This reaction is the second major step in the catabolism of the branched-chain amino acids (Wynn et al., 1998). The BCKD complex consists of 3 catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a homo-24-meric dihydrolipoyl transacylase (E2), and a homodimeric dihydrolipoamide dehydrogenase (E3). E1 is a thiamine pyrophosphate (TPP)-dependent enzyme. The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The BCKDHB gene encodes the beta subunit of E1. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase.
2-oxoisovalerate dehydrogenase (lipoamide); 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial; BCKAD E1[a]; BCKDA; BCKDE1A; BCKDH E1-alpha; BCKDHA; branched chain alpha-ketoacid dehydrogenase subunit E1 alpha; branched chain keto acid dehydrogenase E1 alpha protein; branched chain keto acid dehydrogenase E1, alpha polypeptide; branched chain keto acid dehydrogenase subunit E1, alpha polypeptide; branched chain ketoacid dehydrogenase E1, alpha polypeptide; branched-chain alpha-keto acid dehydrogenase E1 component alpha chain; E1a; MSU; MSUD1; OVD1A
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