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FLASH GENE
Symbol MYH6 contributors: mct - updated : 03-06-2014
HGNC name myosin, heavy chain 6, cardiac muscle, alpha
HGNC id 7576
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • globular head associating to the light chain and containing 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
  • a cargo binding domain that seems to be folded back in the presence of the catalytic head, constituting a potential regulatory mechanism that inhibits dimerization
    • mono polymer heteromer , dimer , hexamer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • motor contractile protein moving towards the "plus" end of actin track
  • having an important role in heart development and congenital heart disorders
  • importance of cardiac myosin (MYH6) in the development of cardiac arrhythmias
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex consisting of two heavy chain subunits, two light chain subunits and two regulatory subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TBX5 and MEF2C (association of TBX5 with MEF2C cooperatively activates transcription from the MYH6 promoter)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMH6 , ASD3 , SSS3 , CMD1EE
    Susceptibility to variation of cardiac conduction
    Variant & Polymorphism SNP
  • c.2161C>T missense mutation in MYH6 resulting in p.Arg721Trp associates with SSS3
  • common variants in this gene modulate cardiac conduction affecting heart rate and the PR intervall
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    activation of myosin by omecamtiv mecarbil may provide a new therapeutic approach for systolic heart failure
    ANIMAL & CELL MODELS