Actin alpha cardiac muscle 1 (ACTC1)

Actin alpha cardiac muscle 1 (ACTC1) is the principal actin isoform of cardiac sarcomeres, playing a central role in cardiac muscle contraction by forming the major protein component of thin filaments within the contractile apparatus[1][2][4]. ACTC1 is highly conserved and essential for the structural integrity and function of cardiomyocytes, where its polymerization from monomeric (G-actin) to filamentous (F-actin) forms underpins the heart’s ability to contract[1][2]. Mutations in ACTC1 are well-documented in various inherited cardiomyopathies (including hypertrophic and dilated forms) and congenital heart defects such as atrial septal defects, with such pathogenic changes leading to altered sarcomere function and cardiac pathology[1][3][7]. Despite its biomedical importance as a disease gene, ACTC1 is not considered a therapeutic drug target in the conventional sense (such as an enzyme, receptor, or transporter); instead, it is a structural cytoskeletal protein fundamental to heart muscle development, growth, and function[2][4][1]. Its expression also serves as a biomarker in some cancers and for genetic diagnosis of familial cardiac diseases[4].

Other names

Cardiac muscle alpha actinActin, alpha cardiac muscle 1ACTCAlpha-cardiac actinCMD1RCMH11ASD5LVNC4

Not applicable (no known drugs directly targeting ACTC1). Some mechanisms include indirect modulation of sarcomeric or cytoskeletal proteins, which might affect ACTC1 function as part of the actin-myosin contraction machinery.