Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. ACTB/ACTC are nonmuscle cytoskeletal actins and major constituents of the contractile apparatus. Defects in ACTB are a cause of juvenile-onset dystonia. Defects in ACTC have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).
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Protein Aliases: Actin, alpha skeletal muscle; Actin, alpha skeletal muscle, intermediate form; Alpha-actin-1; nemaline myopathy type 3
Gene Aliases: ACTA; ACTA1; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM
UniProt ID: (Human) P68133
Entrez Gene ID: (Human) 58