ACTC1

ACTC1 encodes actin alpha cardiac muscle 1, a core component of thin filaments in cardiac sarcomeres. Common aliases include cardiac actin and ACTC. This protein forms the structural framework for muscle contraction, interacting with myosin to enable cross-bridge cycling— the process generating mechanical force for heart pumping.
Mutations in ACTC1 disrupt sarcomere function, leading to hypertrophic (HCM) and dilated (DCM) cardiomyopathy. It participates in the actin-myosin signaling pathway regulating cardiac contractility. While no drugs specifically target ACTC1 mutations yet, standard heart failure therapies (e.g., beta-blockers, ACE inhibitors) alleviate symptoms, and ongoing research explores gene-editing strategies for precise mutation correction.