Aliases for BCKDHA Gene
- Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide 2 3 5
- Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Alpha Chain 3 4
- 2-Oxoisovalerate Dehydrogenase (Lipoamide) 2 3
- BCKDH E1-Alpha 3 4
- EC 22.214.171.124 4 63
- BCKDE1A 3 4
- Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) 2
External Ids for BCKDHA Gene
Previous HGNC Symbols for BCKDHA Gene
Previous GeneCards Identifiers 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 Maple Syrup Urine Disease, Type Ii and Intermediate Maple Syrup Urine Disease. Among its related pathways are Glyoxylate metabolism and glycine degradation and Valine, leucine and isoleucine degradation. GO annotations related to this gene include carboxy-lyase activity and alpha-ketoacid dehydrogenase 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).