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FLASH GENE
Symbol ETFDH contributors: mct/npt - updated : 13-10-2009
HGNC name electron-transferring-flavoprotein dehydrogenase
HGNC id 3483
Corresponding disease
ETFDH glutaric acidemia, type II
Location 4q32.1      Physical location : 159.593.276 - 159.629.839
Synonym name
  • ETF-ubiquinone oxidoreductase
  • ETF dehydrogenase
    • Synonym symbol(s) ETFQO
    EC.number 1.5.5.1
    DNA
    TYPE functioning gene
    STRUCTURE 36.56 kb     13 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
    13 - 2349 64.7 617 - Olsen (2007)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver   highly
     mouthtongue  highly
    Lymphoid/Immunethymus   highly
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • FAD binding domain
  • C terminal iron- sulfur binding domain
    • conjugated FlavoP
    mono polymer monomer
    isoforms Precursor 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane
    HOMOLOGY
    interspecies homolog to murine Etfdh
    Homologene
    FAMILY
  • ETF-QO/FIXC family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepting electrons from electron-transfer flavoprotein
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETFDH
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS