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 …

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 …

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 …

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, …

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 …

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 …

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 …

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 …

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 …

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 …