Aliases for ACTC1 Gene
External Ids for ACTC1 Gene
Previous HGNC Symbols for ACTC1 Gene
Previous GeneCards Identifiers for ACTC1 Gene
Actins are highly conserved proteins that are involved in various types of cell motility. 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. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTC1 Gene
ACTC1 (Actin, Alpha, Cardiac Muscle 1) is a Protein Coding gene. Diseases associated with ACTC1 include Atrial Septal Defect 5 and Cardiomyopathy, Dilated, 1R. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include ATPase activity and myosin binding. An important paralog of this gene is ACTRT1.
UniProtKB/Swiss-Prot for ACTC1 Gene
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.