Synonyms: Branched chain alpha keto acid dehydrogenase E1 component alpha polypeptide, FLJ45695, OVD1A,2 oxoisovalerate dehydrogenase (lipoamide),2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial ,2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial,BCKDE1A,BCKDH E1 alpha,BCKDH E1-alpha,BCKDHA,Branched chain alpha keto acid dehydrogenase E1 component alpha chain,Branched chain keto acid dehydrogenase E1 alpha polypeptide,Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease),Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain,MSU,MSUD1,ODBA
Background: The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.