Gene:
dihydrolipoamide branched chain transacylase E2
Gene ID:
210051
Symbol:
DBT
Species:
1000
Description:
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 1.2.4.4), an inner-mitochondrial enzyme complex that consists of 3 catalytic components: a heterotetrameric (alpha2, beta2) branched-chain alpha-ketoacid decarboxylase (E1-alpha; MIM 608348 and E1-beta; MIM 248611), a homo-24-meric dihydrolipoyl transacylase (E2), and a homodimeric dihydrolipoamide dehydrogenase (E3; MIM 246900). 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 DBT gene encodes the E2 component.[supplied by OMIM]