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GENATLAS PHENOTYPE

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))