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FLASH GENE
Symbol BCKDHA contributors: mct - updated : 07-02-2018
HGNC name branched chain keto acid dehydrogenase E1, alpha polypeptide
HGNC id 986
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , tetramer
HOMOLOGY
interspecies ortholog to murine Bckdha
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • catalyzing the second major step in the catabolism of branched chain aminooacids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
  • heterotetramerizing with BCKDHB, to form the 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 in the BCKAD complex
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    thiamine pyrophosphate
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSUD1A
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS