Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol BCKDK contributors: mct - updated : 07-02-2018
HGNC name branched chain ketoacid dehydrogenase kinase
HGNC id 16902
  • Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation
  • mice deficient for Bckdk display increased basal activity of the BCKDH complex as well as reduced BCAAs in various tissues, and neurological deficits were completely abolished within a week of the Bckdk-/- mice starting the BCAA-enriched diet, which suggests that they have an inducible yet reversible phenotype