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 …

关于 actc1 Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,790,230-34,795,549 (from NCBI) This gene has 6 transcripts (splice variants), 206 orthologues, 26 …

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 · Clinical resource with information about ACTC1, A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14., A genome …

2024年12月29日 · 本文将详细介绍ACTC1基因的遗传变异及其生物学意义，包括该基因的多态性、单核苷酸多态性（SNP）以及遗传变异与表型的关系，帮助读者更好地理解这一与心脏肌肉 …

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 …

Predicted to be active in actin filament; glutamatergic synapse; and sarcomere. Biomarker of hypertension. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated …