BCKDK

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]

Full Name

Branched Chain Ketoacid Dehydrogenase Kinase

Function

Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.

Biological Process

Branched-chain amino acid catabolic process Source: HGNC-UCL
Cellular amino acid catabolic process Source: UniProtKB
Isoleucine catabolic process Source: Ensembl
Leucine catabolic process Source: Ensembl
Negative regulation of cellular amino acid metabolic process Source: Reactome
Phosphorylation Source: HGNC-UCL
Protein phosphorylation Source: GO_Central
Regulation of glucose metabolic process Source: GO_Central
Spermatogenesis Source: Ensembl
Valine catabolic process Source: Ensembl

Cellular Location

Mitochondrion matrix; Mitochondrion

Involvement in disease

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD): This suggests that it may be possible to treat patients with mutations in BCKDK with BCAA supplementation.
Disease descriptionA metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.

PTM

Autophosphorylated.