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MA1-21597 detects alpha sarcomeric actin in bovine, guinea pig,human, rabbit, rat, fish, pig, snake, Xenopus and sheep samples.
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: act; actg; actin, alpha 2, smooth muscle, aorta; Actin, alpha cardiac muscle 1; Actin, alpha skeletal muscle; Actin, aortic smooth muscle; Alpha-actin-1; Alpha-actin-2; Alpha-cardiac actin; alpha-sma; alpha-smooth muscle actin; beta-actin; Cell growth-inhibiting gene 46 protein; cytoplasmic beta-actin; dfna20; dfna26; MGC75587; nemaline myopathy type 3; unnamed protein product
基因别名: AAT6; ACTA; ACTA1; ACTA2; ACTC; ACTC1; ACTSA; ACTVS; ASD5; ASMA; CFTD; CFTD1; CFTDM; CMD1R; CMH11; GIG46; LVNC4; MPFD; MYMY5; NEM1; NEM2; NEM3; SHPM
UniProt ID: (Human) P68133, (Rabbit) P62740, (Human) P04108, (Human) P68032
Entrez Gene ID: (Human) 58, (Rabbit) 100009506, (Rabbit) 100009271, (Human) 59, (Human) 70, (Rabbit) 100340339
分子生物学功能: actin and actin related protein actin or actin-binding cytoskeletal protein cytoskeletal protein