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FLASH GENE
Symbol SMPX contributors: mct - updated : 25-08-2011
HGNC name small muscle protein, X-linked
HGNC id 11122
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four coiled-coil structures
  • two overlapping putative casein kinase
  • two phosphorylation sites
    • HOMOLOGY
    interspecies homolog to porcine Smpx (97 p100)
    Homologene
    FAMILY
    CATEGORY unknown/unspecified , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    basic FUNCTION
  • required during myoblast proliferation
  • may be playing a role in skeletal muscle hypertrophy
  • localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the RAC1-MAPK14 pathway
  • cytoskeleton-associated protein that is responsive to mechanical stress
  • might well be a player in the regulation of stereocilia development and/or maintenance
  • can functions in inner ear development and/or maintenance in the IGF1 pathway, the integrin pathway through RAC1, or both
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFN6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS