Target Information
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects.
Synonyms
0610041G09Rik; AA959943; AAT6; act; ACT-4; ACTA; acta1; ACTA1 protein; Acta2; Acta-2; ACTC; actc1; Actc-1; actc1.L; actg; actin; Actin alpha 1; actin alpha 1, skeletal muscle; actin alpha 2, smooth muscle; actin alpha cardiac; actin alpha cardiac 1; actin alpha cardiac muscle 1; actin, alpha 1, skeletal muscle; actin, alpha 2, smooth muscle, aorta; actin, alpha cardiac muscle 1; Actin, alpha cardiac muscle 1, intermediate form; Actin, alpha skeletal muscle; Actin, alpha skeletal muscle, intermediate form; actin, alpha, cardiac 1; actin, alpha, cardiac muscle; actin, alpha, cardiac muscle 1; actin, alpha, cardiac muscle 1 L homeolog; actin, alpha, vascular smooth muscle; actin, aortic smooth muscle; Actin, aortic smooth muscle, intermediate form; actna1; Acts; ACTSA; Actsk-1; ACTVS; alpha actin; alpha actin 1; alpha actin 2; alpha-actin cardiac; Alpha-actin-1; Alpha-actin-2; alphac-actin; alpha-cardiac actin; alphaSMA; alpha-sma; alpha-smooth muscle actin; ASD5; ASMA; a-SMA; B-actin; beta actin; beta-actin; cardiac actin; cardiac alpha actin; cardiac muscle alpha actin 1; cell growth-inhibiting gene 46 protein; CFTD; CFTD1; CFTDM; CMD1R; CMH11; cytoplasmic beta-actin; dfna20; dfna26; GIG46; hypothetical protein LOC515610; LOW QUALITY PROTEIN: actin, alpha skeletal muscle; LOW QUALITY PROTEIN: actin, aortic smooth muscle; LVNC4; MGC75587; MPFD; muscle actin; MYMY5; NEM1; NEM2; NEM3; nemaline myopathy type 3; SHPM; skeletal alpha actin; SMalphaA; smooth muscle alpha-actin; unnamed protein product; vascular smooth muscle alpha-actin; XELAEV_18039999mg