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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: actin alpha 1; actin alpha cardiac 1; actin, alpha 1, skeletal muscle; actin, alpha 2, smooth muscle, aorta; Actin, alpha cardiac muscle 1; Actin, alpha skeletal muscle; actin, alpha, cardiac 1; Actin, aortic smooth muscle; Actin, cytoplasmic 2; actin, gamma 2, smooth muscle, enteric; actin, gamma, cytoplasmic 1; Actin, gamma-enteric smooth muscle; actin-like protein; alpha-actin cardiac; Alpha-actin-1; Alpha-actin-2; Alpha-actin-3; Alpha-cardiac actin; alpha-sma; alpha-smooth muscle actin; cardiac actin; Cell growth-inhibiting gene 46 protein; cytoplasmic beta-actin; cytoskeletal gamma-actin; deafness, autosomal dominant 20; deafness, autosomal dominant 26; epididymis luminal protein 176; Gamma-2-actin; Gamma-actin; gamma-enteric smooth muscle actin; nemaline myopathy type 3; RP5-1068B5.2; smooth muscle alpha-actin; Smooth muscle gamma-actin; unnamed protein product
基因别名: AAT6; ACT; ACTA; ACTA1; ACTA2; ACTA3; ACTC; ACTC1; ACTE; ACTG; ACTG1; ACTG2; ACTGE; ACTL3; ACTSA; ACTSG; ACTVS; ASD5; ASMA; BRWS2; CFTD; CFTD1; CFTDM; CMD1R; CMH11; DFNA20; DFNA26; GIG46; HEL-176; LVNC4; MPFD; MYMY5; NEM1; NEM2; NEM3; SHPM; SMGA; VSCM
UniProt ID: (Human) P68133, (Rabbit) P62740, (Human) P62736, (Human) P68032, (Human) P63261, (Human) P63267, (Rat) P68136, (Rat) P62738, (Rat) P68035, (Rat) P63259, (Rat) P63269
Entrez Gene ID: (Human) 58, (Rabbit) 100009506, (Dog) 488984, (Rabbit) 100009271, (Human) 59, (Dog) 477587, (Cat) 100144392, (Human) 70, (Dog) 478250, (Rabbit) 100340339, (Human) 71, (Dog) 475923, (Human) 72, (Rabbit) 100350318, (Dog) 475792, (Rat) 29437, (Rat) 81633, (Rat) 29275, (Rat) 287876, (Rat) 25365