Cardiac alpha actin is a 42.0 kDa protein composed of 377 amino acids.
Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix.
Experiments in chick embryos found an association between ACTC1 knockdown and a reduction in the atrial septa.
[14] Polymorphisms in ACTC1 have been linked to dilated cardiomyopathy in a small number of Japanese patients.
[16] The E101K missense mutation has been associated with hypertrophic cardiomyopathy[17][18][19][20] and left ventricular noncompaction.