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.
actin; actin alpha 1; actin, alpha 2, smooth muscle, aorta; Actin, alpha skeletal muscle; Actin, alpha skeletal muscle, intermediate form; actin, alpha, vascular smooth muscle; Actin, aortic smooth muscle; Actin, aortic smooth muscle, intermediate form; alpha actin; alpha actin 2; alpha skeletal muscle; alpha skeletal muscle actin; Alpha-actin-1; Alpha-actin-2; alpha-cardiac actin; alpha-smooth muscle actin; Cell growth-inhibiting gene 46 protein; cytoplasmic beta-actin; nemaline myopathy type 3; smooth muscle alpha-actin
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