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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.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
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 skeletal muscle; actin, alpha, vascular smooth muscle; Actin, aortic smooth muscle; Alpha-actin-1; Alpha-actin-2; alpha-cardiac actin; Cell growth-inhibiting gene 46 protein; nemaline myopathy type 3
基因别名: 0610041G09Rik; a-SMA; AA959943; AAT6; ACTA; Acta-2; ACTA1; ACTA2; Acts; ACTSA; Actsk-1; ACTVS; alphaSMA; ASMA; CFTD; CFTD1; CFTDM; GIG46; MPFD; MYMY5; NEM1; NEM2; NEM3; SHPM; SMalphaA
UniProt ID: (Human) P68133, (Human) P62736, (Mouse) P68134, (Mouse) P62737
Entrez Gene ID: (Human) 58, (Human) 59, (Mouse) 11459, (Mouse) 11475