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FLASH GENE
Symbol DBT contributors: - updated : 20-04-2007
HGNC name dihydrolipoamide branched chain transacylase E2
HGNC id 2698
Corresponding disease
MSUD2 maple syrup urine disease
Location 1p31      Physical location : 100.652.478 - 100.715.409
Synonym name
  • dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
  • lipoamide acyltransferase component of branched-chain alpha-keto acid
  • BCKAD E2 subunit
  • Synonym symbol(s) BCKAD, E2, E2B, BCATE2, MGC9061
    EC.number 2.3.1.168
    DNA
    TYPE functioning gene
    STRUCTURE 55.00 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU   long interspersed repetitive elements   other
    text structure repeated sequence,Alu,MER,,Line-1,LIMB
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbraindiencephalonhypothalamus  
    Reproductivemale systemprostate   
     male systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectiveadipose   
    Connectivebone   
    Muscularstriatum   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one biotin-lipoyl binding domain
  • an E3 binding domain
  • a 2-oxoacid-dehydrogenase acetyl CoA domain (catalytic)
  • HOMOLOGY
    interspecies ortholog to murine Dbt (85 pc)
    Homologene
    FAMILY 2-oxoacid dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • catalyzing the overall conversion of alpha-keto acids, leucine and isoleucine to acetyl CoA and valine to succinyl CoA
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
  • branched chain retoacid dehydrogenase multimolecules complex (see BCBDHA)
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    covalently bound biotin lipoyl cofactor and CoA
    protein
  • binding dihydrolipoyl dehydrogenase (E3) through interaction with E3 binding proteihn (PDHX)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MSUD2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS