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NeoBiotechnologies
Positive Control:Muscle or sarcoma.
Cellular Location: Cytoplasm.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Actin, alpha cardiac muscle 1; Actin, alpha skeletal muscle; Actin, aortic smooth muscle; Actin, cytoplasmic 2; Actin, gamma-enteric smooth muscle; actin-like protein; Alpha-actin-1; Alpha-actin-2; Alpha-actin-3; Alpha-cardiac actin; alpha-sma; Cell growth-inhibiting gene 46 protein; cytoskeletal gamma-actin; deafness, autosomal dominant 20; deafness, autosomal dominant 26; epididymis luminal protein 176; Gamma-2-actin; Gamma-actin; nemaline myopathy type 3; RP5-1068B5.2; Smooth muscle gamma-actin
Gene Aliases: AAT6; ACT; ACTA; ACTA1; ACTA2; ACTA3; ACTC; ACTC1; ACTE; ACTG; ACTG1; ACTG2; ACTL3; ACTSA; ACTSG; ACTVS; ASD5; ASMA; BRWS2; CFTD; CFTD1; CFTDM; CMD1R; CMH11; DFNA20; DFNA26; GIG46; HEL-176; LVNC4; MPFD; MYMY5; NEM1; NEM2; NEM3; SHPM; VSCM
UniProt ID: (Human) P68133, (Human) P62736, (Human) P68032, (Human) P63261, (Human) P63267
Entrez Gene ID: (Human) 58, (Human) 59, (Human) 70, (Human) 71, (Human) 72
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