Aliases for BCKDHA Gene
External Ids for BCKDHA Gene
Previous Symbols for BCKDHA Gene
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.[provided by RefSeq, Sep 2009]
GeneCards Summary for BCKDHA Gene
BCKDHA (Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHA include intermediate maple syrup urine disease and intermittent maple syrup urine disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include carboxy-lyase activity and 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. An important paralog of this gene is PDHA2.
UniProtKB/Swiss-Prot for BCKDHA Gene
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)