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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
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