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GENATLAS PHENOTYPE

last update : 04-05-2009

Symbol	CMH3
Location	15q22.2
HGNC id	2115
Name	cardiomyopathy, familial, hypertrophic, 3
Corresponding gene	TPM1
Other symbol(s)	CMFH3, FHC3
Main clinical features	familial hypertrophic cardiomyopathy significant impairment of left ventricular systolic function, and analysis of papillary muscle fibers showed a decrease in contractile function
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	tropomyosin, skeletal muscle, alpha (TPM1)

Remark(s)

mlutation increasing the Ca(2+) sensitivity of contractility (Robinson 2007) E180G and D175N mutants of tropomyosin had destabilized coiled-coils and reduced the affinity of tropomyosin to actin filaments, and patients with cardiomyopathy due to E180G mutations show a higher mortality than those with D175N V95A mutation reduced ATPase activities in the presence and absence of calcium, either stabilizes the inactive state of actin, or cannot fully reach the active state, and is highly lethal, but produces minimal cardiac gross and microscopic pathology (PMID: 21295541))