Human Actin Alpha 1, Cardiac Muscle (ACTC1) Protein

Background

ACTC1 encodes for actin alpha 1, a protein that is a crucial component of the contractile apparatus in cardiac muscle cells (cardiomyocytes). It is a major component of the contractile apparatus in cardiac muscle cells, contributing to the contraction and relaxation of the heart. It forms filamentous structures that, along with other proteins such as myosin, tropomyosin, and troponin, make up the sarcomeres—the basic contractile units of cardiac muscle. The contraction of cardiac muscle is regulated by calcium-dependent signaling pathways that modulate the interaction between actin and myosin. During each heartbeat, calcium ions bind to troponin, leading to conformational changes that expose binding sites on actin, allowing myosin to interact and generate force for muscle contraction. The expression of ACTC1 is highly regulated during cardiac development and in response to physiological and pathological stimuli. Mutations in the ACTC1 gene have been associated with various congenital heart diseases, such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), which are characterized by abnormalities in cardiac muscle structure and function