Anti-ACTC1 抗体 (ab151787)

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]. 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.
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.
Defects in ACTC1 are the cause of atrial septal defect type 5 (ASD5) [MIM:612794]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

Belongs to the actin family.

Cytoplasm > cytoskeleton.