2024年12月24日 · ACTC1 (Actin Alpha Cardiac Muscle 1) is a Protein Coding gene. Diseases associated with ACTC1 include Atrial Septal Defect 5 and Cardiomyopathy, Familial Hypertrophic, 11. Among its related pathways are Signaling by Rho …

ACTC1 encodes cardiac muscle alpha actin. [5] [6] This isoform differs from the alpha actin that is expressed in skeletal muscle, ACTA1. Alpha cardiac actin is the major protein of the thin filament in cardiac sarcomeres, which are responsible for muscle contraction and generation of force to support the pump function of the heart.

Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four Others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of …

2025年2月9日 · The results indicate that ACTC1 mutations or reduced ACTC1 levels may lead to atrial septal defect without signs of cardiomyopathy. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene.(Phe375Cys)

2025年2月9日 · Title: A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.

2019年8月20日 · The ACTC1 gene encodes cardiac α-actin that together with regulatory proteins tropomyosin and 3 troponins (C, I, and T) forms the thin contractile filament, in turn connecting the myocellular Z-disc with the thick filament protein myosin. Actin is …

2024年12月10日 · Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma.

A combined phenotype of ASD and late-onset heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation. Mechanistically, we found a shared molecular mechanism of defective actin signaling and polymerization in both cardiac development and contractile function.

Involved in cardiac muscle contraction; response to ethanol; and response to xenobiotic stimulus. Predicted to be located in several cellular components, including I band; filopodium; and lamellipodium. Predicted to be part of dynactin complex. Predicted to be active in actin filament; glutamatergic synapse; and sarcomere.

2021年3月4日 · ACTC1 is the major component of cardiac sarcomeric thin filaments and is essential for cardiac muscle contraction (summary by Matsson et al., 2008). Because actin is a highly conserved protein, Engel et al. (1981) could use cloned actin genes from Drosophila and from chicken to isolate 12 actin gene fragments from a human DNA library.