Protein Name dihydrolipoamide branched chain transacylase E2
Organism Homo sapiens
Gene ID 1629
Gene Symbol

DBT

UniProt P11182 (ODB2_HUMAN)
Relationships Total Number of functionally related compound(s) : 78
Total Number of Articles : 75
Description

dihydrolipoamide branched chain transacylase E2

Gene Summary

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]

synonyms
  • lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
  • 52 kDa mitochondrial autoantigen of primary biliary cirrhosis
  • BCKAD E2 subunit
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Properties