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FLASH GENE
Symbol DFFA contributors: mct/npt - updated : 19/09/2008
HGNC name DNA fragmentation factor, 45kDa, alpha polypeptide
HGNC id 2772
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • regulatory CIDE-N domain (cell death inducing DFFA-like effector)
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to Drosophila Drep1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • inhibitor necessary for DFFB stabilization in an inactive state in living cells
  • apoptotic DNA fragmentation factor is required for the maintenance of genetic stability and may play a role in tumor suppression
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    intracellular signaling cascade
    a component
  • alpha subunit heterodimerizing with a 40kDa subunit (DFFB)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DFF-B
  • with BCR (PCAF and BCR signalling are essential for apoptotic cell death (PCAF and BCR signalling control cooperatively pre-mature B cell apoptosis via both depletions of DFFA and BIRC2)
  • cell & other
    REGULATION
    activated by caspase-3 during apoptosis (cleavage by CASP3)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in low stage neuroblastoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS