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FLASH GENE
Symbol APBB3 contributors: mct - updated : 31-10-2012
HGNC name amyloid beta (A4) precursor protein-binding, family B, member 3
HGNC id 20708
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal atypical SRC3 (WW, phosphoserine or phosphothreonine binding)
  • two phophotyrosine domains (PID) interacting with the YENPTY motif of APP
    • HOMOLOGY
    interspecies homolog to murine B3fe65 like gene
    Homologene
    FAMILY Fe65 protein family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • APBB1, APBB2, APBB3 contribute to physiological APP processing and accumulation of APP metabolic products resulting from NMDAR activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bind the C-terminal region of the amyloid precursor protein (APP)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to early-onset Alzheimer disease
    Variant & Polymorphism other c954C-->T polymorphism is associated with early-onset Alzheimer disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS