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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
Corresponding disease
MSUD1A maple syrup urine disease, classic form
Location 19q13.2      Physical location : 41.903.693 - 41.930.909
Synonym name
  • branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
  • BCKDH E1-alpha
  • Synonym symbol(s) BKADE1A, BKE1A, FLJ45695, MSU, BCKDE1A, MSUD1, OVD1A
    EC.number 1.2.4.4
    DNA
    TYPE functioning gene
    STRUCTURE 28.22 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    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