BCKDK gene

branched chain ketoacid dehydrogenase kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Branched-chain keto acid dehydrogenase kinase deficiency

From UniProt:

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD): A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. [MIM:614923]

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 31,108,294 to 31,117,651 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2
  • BCKDKD
  • BDK