Disease:Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function , resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ,Disease:Defects in ACTC1 are the cause of cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy , which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea , syncope , collapse , palpitations , and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ,Function:Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. ,miscellaneous:In vertebrates 3 main groups of actin isoforms , alpha , beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. ,similarity:Belongs to the actin family. ,subunit:Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. ,
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