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GENATLAS PHENOTYPE

last update : 16-12-2009

Symbol	CMD1CC
Location	1p31.1
Name	cardiomyopathy, dilated or hypertrophic 1 CC
Corresponding gene	NEXN
Main clinical features	progressive disturbance in atrioventricular conduction and depression of cardiac contractility, without conduction system disease, in any cases isolated left ventricular noncompaction onset of dilated cardiomyopathy in the fifth or sixth decade of life
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Remark(s)

Q131E mutation decreased the binding of full-length NEXN to alpha -actin and abolished the interaction between the fragment of actin-binding domain and alpha-actin (PMID: 20970104))