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FLASH GENE
Symbol MYH4 contributors: mct/npt - updated : 30-09-2014
HGNC name myosin, heavy polypeptide 4, skeletal muscle
HGNC id 7574
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head associating to the light chain
  • actin and ATP binding sites
  • a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail,(the liver)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • motor contractile protein moving towards the "plus" end of actin track
  • constitute the actomyosin cytoskeleton that mediates contractility during apoptosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • only uses NFATC4 (Calabria 2009)
  • MSTN positively regulates slow isoform MYH7 but negatively regulates fast isoforms MYH1, MYH4
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ariel mouse suffers from a fulminant myofibrillar myopathy, due to the rapid accumulation of large intracellular protein aggregates, caused by an ENU-induced recessive mutation resulting in an L342Q change within the motor domain of the skeletal muscle myosin protein Myh4