該基因編碼的產物屬于肌動蛋白家族，是一種高度保守的蛋白質，在細胞的運動、結構和完整性中起著重要作用。α、β和γ肌動蛋白亞型已被鑒定，α肌動蛋白是收縮裝置的主要組成部分，而β和γ肌動蛋白參與細胞運動的調節。這種肌動蛋白是骨骼肌中發現的α肌動蛋白。該基因突變可導致3型向列型肌病、先天性肌病（肌絲過細）、先天性肌病（帶核）、先天性肌病（纖維型比例失調）、導致肌纖維缺陷的疾病。
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.