Actin, alpha cardiac muscle 1 (ACTC1) (ACTC1)

Actin, alpha cardiac muscle 1 (ACTC1) is a fundamental protein that constitutes the thin filaments of the cardiac sarcomere, playing a central role in the heart's contractile machinery (UniProt P68032). It interacts with myosin thick filaments in a calcium-regulated process to facilitate the sliding filament mechanism, which generates the force necessary for blood circulation (NCBI Gene ID: 70). Mutations in the ACTC1 gene are significantly associated with various inherited cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), as well as congenital heart defects like atrial septal defects (Mogensen et al., 2004; Olson et al., 1998). While direct pharmacological targeting of ACTC1 is limited by its high homology with other actin isoforms, it is a primary focus for genetic therapies aimed at correcting underlying mutations (NIH MedlinePlus). Additionally, ACTC1 is a critical component of the actomyosin complex, which is the target of modern cardiac myotropes designed to treat heart failure and genetic heart diseases (ClinicalTrials.gov). Its role as a biomarker is also emerging in certain cancers, where its expression correlates with tumor progression and metastasis (MDPI, 2020).

Other names

Alpha-cardiac actinACTCASD5CMD1RCMH11LVNC4

Modulation of the actin-myosin cross-bridge cycle and stabilization of the thin filament structure.