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FLASH GENE
Symbol BCKDHB contributors: - updated : 03-03-2007
HGNC name branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
HGNC id 987
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Muscularstriatum   
cells
SystemCellPubmedSpeciesStageRna symbol
not specificfibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , dimer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism aminoacid
signaling
branched chain, second step of oxidative decarboxylation
a component
  • heterodimerizing with BCKDHA
  • component E1 of the branched chain ketoacid dehydrogenase,associated with a transacylase E2,a lipoamide dehydrogenase E3 and two regulatory subunits,a kinase and a phosphatase
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    thiamine diphosphate dependent enzyme
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSUD1B
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS