Dihydrolipoamide Branched Chain Transacylase E2 (DBT) Antibody – Rabbit Polyclonal

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]

DBT: 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). Defects in DBT are the cause of maple syrup urine disease type 2 (MSUD2). MSUD is an autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine. Belongs to the 2-oxoacid dehydrogenase family.

Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Transferase; EC 2.3.1.168

Chromosomal Location of Human Ortholog: 1p31

Cellular Component: mitochondrial alpha-ketoglutarate dehydrogenase complex; mitochondrion; mitochondrial matrix

Molecular Function: dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity

Biological Process: branched chain family amino acid catabolic process

Disease: Maple Syrup Urine Disease