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FLASH GENE
Symbol ACADVL contributors: - updated : 12-10-2006
HGNC name acyl-Coenzyme A dehydrogenase, very long chain
HGNC id 92
Corresponding disease
ACADVL ACADVL deficiency presenting a severe childhood form
Location 17p13.1      Physical location : 7.123.152 - 7.128.584
Synonym name very-long-chain specific acyl-CoA dehydrogenase, mitochondrial
Synonym symbol(s) LCACD, VLCAD, ACAD6
EC.number 1.13.99.13
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
text head to head with DLG4
STRUCTURE 5.00 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
text structure
  • AP-2 binding site regulating the promoter and a 15 bp DNA motif
  • bidirectonal promoter with DLG4
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2320 70.4 655 - Zhang
    - - 2254 - 633 - Zhang
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
     vessel    
    Digestiveliver   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisualphotoreceptor layer 
    Muscularstriatumcardiac  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text developing kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an all-alpha all terminal domain, transmembrane segment
  • all-alpha, four helical up-and-down bundle
  • C terminal domain
  • mono polymer homomer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to murine Acadvl
    Homologene
    FAMILY acyl-CoA dehydrogenase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • acyl-CoA dehydrogenase, very long chain 14 to 20C, first step of the fatty acid beta-oxidation
  • transferring an electron to ETF
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    FAD+
    protein
    cell & other
    REGULATION
    activated by activator protein 2 (TAFP2A)
    ASSOCIATED DISORDERS
    corresponding disease(s) ACADVL
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS