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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.
AA959943; ACTA; Acta1; Acta-2; actin alpha 1; actin alpha 1, skeletal muscle; actin, alpha 1, skeletal muscle; actin, alpha skeletal muscle; Actin, alpha skeletal muscle, intermediate form; Acts; Actsk-1; alpha actin 1; alpha-actin-1; ASMA; beta actin; CFTD; CFTD1; CFTDM; cytoplasmic beta-actin; LOW QUALITY PROTEIN: actin, alpha skeletal muscle; MPFD; NEM1; NEM2; NEM3; nemaline myopathy type 3; SHPM; skeletal alpha actin; unnamed protein product
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100 µg
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100 µg