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FLASH GENE
Symbol BCKDK contributors: mct - updated : 07-02-2018
HGNC name branched chain ketoacid dehydrogenase kinase
HGNC id 16902
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an histidine kinase domain
  • conjugated PhosphoP
    mono polymer monomer , complex
    HOMOLOGY
    interspecies ortholog to murine Bckdk
    ortholog to rattus Bckdk
    Homologene
    FAMILY
  • PDK/BCKDK protein kinase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • catalyzing the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex (the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways)
  • regulating the activity state of the BCKD complex
  • catalyzes the irreversible, rate-limiting step in the catabolism of branched-chain amino acids (BCAAs)
  • integral part of an enzyme complex located in the mitochondrial matrix of many tissues which regulates the levels of the branched-chain amino acids (BCAAs), leucine, isoleucine and valine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • alpha-ketoglutarate dehydrogenase complex
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • role of BCKDK in negative regulation of the BCKDHA complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BCKDKD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 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