The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Function:
DBT or dihydrolipoamide branched chain transacylase E2 is a component of the BCKD (branched-chain alpha-keto dehydrogenase) complex which is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. The BCKD complex is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine.
Subcellular Location:
Mitochondrion matrix.
SWISS:
P11182
Gene ID:
1629
Database links:
Entrez Gene: 1629 Human
Entrez Gene: 280759 Cow
Entrez Gene: 13171 Mouse
Entrez Gene: 29611 Rat
Omim: 248610 Human
SwissProt: P11181 Cow
SwissProt: P11182 Human
SwissProt: P53395 Mouse
SwissProt: Q99PU6 Rat
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