From Wikipedia, the free encyclopedia
Jump to: navigation, search
Branched chain keto acid dehydrogenase E1, alpha polypeptide
Protein BCKDHA PDB 1dtw.png
PDB rendering based on 1dtw.
Available structures
PDB Ortholog search: PDBe, RCSB
External IDs OMIM608348 MGI107701 HomoloGene569 GeneCards: BCKDHA Gene
EC number
Species Human Mouse
Entrez 593 12039
Ensembl ENSG00000248098 ENSMUSG00000060376
UniProt P12694 Q3U3J1
RefSeq (mRNA) NM_000709 NM_007533
RefSeq (protein) NP_000700 NP_031559
Location (UCSC) Chr 19:
41.88 – 41.93 Mb
Chr 7:
25.63 – 25.66 Mb
PubMed search [1] [2]

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the BCKDHA gene.[1]

The second major step in the catabolism of the branched-chain amino acids, isoleucine, leucine, and valine, is catalyzed by the branched-chain alpha-keto acid dehydrogenase complex (BCKD; EC, an inner-mitochondrial enzyme complex that consists of 3 catalytic components: a heterotetrameric (alpha2, beta2) branched-chain alpha-keto acid decarboxylase (E1), a homo-24-meric dihydrolipoyl transacylase (E2; MIM 248610), and a homodimeric dihydrolipoamide dehydrogenase (E3; MIM 238331). The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase. The BCKDHA gene encodes the alpha subunit of E1, and the BCKDHB gene (MIM 248611) encodes the beta subunit of E1.[supplied by OMIM][1]


Further reading[edit]