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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-10-2013
Symbol CMH15
Location 1p36.11
Name cardiomyopathy, familial, hypertrophic, 15
Corresponding gene TRIM63
Main clinical features
  • hypertrophy of the cardiac papillary muscles causing mid cavity obstruction
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Remark(s) . it is possible that reduced E3 ligase activity of the mutant TRIM63 proteins impairs clearance of misfolded and damaged sarcomere proteins, which might partially incorporate into the sarcomere and cause sarcomere dysfunction leading to cardiac hypertrophy and dysfunction (PMID: 22821932))