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FLASH GENE
Symbol MYBPC3 contributors: mlc/npt - updated : 09-11-2016
HGNC name myosin binding protein C, cardiac
HGNC id 7551
ASSOCIATED DISORDERS
corresponding disease(s) CMH4 , CMHNE
related resource FHC Mutation Database
Susceptibility
  • to chronic risk of heart failure
  • to idiopathic dilated cardiomyopathy
  • Variant & Polymorphism insertion/deletion , other
  • 25-bp deletion, a common MYBPC3 variant in South Asians, is associated with chronic risk of heart failure (Dhandapany 2009)
  • mutated in idiopathic dilated cardiomyopathy (Moller 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • elevated oxidative stress in MYPBC3-mutated dilated cardiomyopathy (DCM) mice, which may exacerbate the development of heart failure
  • mechanism leading to cardiac dilation in homozygous Mybpc3(-/-) mice is primarily myocyte hyperplasia, and mechanism leading to hypertrophic cardiomyopathy in heterozygous Mybpc3(+/-) individuals is myocyte hypertrophy (increased cell size)