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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1791 - 445 - 2013 23729548
9 - 1788 - 444 - 2013 23729548
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose   
Muscularstriatum   
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
not specificfibroblast
cell lineage
cell lines
fluid/secretion
at STAGE
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