BCKDK Antibody – Rabbit Polyclonal

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

BCKDK: an atypical protein kinase associated with the mitochondrial matrix. Contains a HATPase_c domain, found in several ATP-binding proteins including protein histidine kinases (PHKs), PHDKs, DNA gyrase B, topoisomerases, heat shock proteins, and DNA mismatch repair proteins. Unlike PHKs, BCK dimerizes through direct interaction of two opposing nucleotide-binding domains. Phosphorylates and inactivates the E1-alpha subunit of the branched-chain ketoacid dehydrogenase (BCKDK), the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Inactivating mutations have been discovered in BCKDK in families with autism, epilepsy, and intellectual disability, a syndrome that may respond to dietary supplementation.

Protein type: Protein kinase, atypical; Kinase, protein; Mitochondrial; EC 2.7.11.4; ATYPICAL group; PDHK family

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: mitochondrial alpha-ketoglutarate dehydrogenase complex; mitochondrion

Molecular Function: protein serine/threonine kinase activity; protein binding; [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity; kinase activity; ATP binding

Biological Process: branched chain family amino acid catabolic process; amino acid catabolic process; phosphorylation; protein amino acid phosphorylation

Disease: Branched-chain Ketoacid Dehydrogenase Kinase Deficiency