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Proteintech
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Immunogen sequence: MCDEDETTA LVCDNGSGLV KAGFAGDDAP RAVFPSIVGR PRHQGVMVGM GQKDSYVGDE AQSKRGILTL KYPIEHGIIT NWDDMEKIWH HTFYNELRVA PEEHPTLLTE APLNPKANRE KMTQIMFETF NVPAMYVAIQ AVLSLYASGR TTGIVLDSGD GVTHNVPIYE GYALPHAIMR LDLAGRDLTD YLMKILTERG YSFVTTAERE IVRDIKEKLC YVALDFENEM ATAASSSSLE KSYELPDGQV ITIGNERFRC PETLFQPSFI GMESAGIHET TYNSIMKCDI DIRKDLYANN VMSGGTTMYP GIADRMQKEI TALAPSTMKI KIIAPPERKY SVWIGGSILA SLSTFQQMWI TKQEYDEAGP SIVHRKCF (1-377 aa encoded by BC012597)
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 skeletal muscle; Alpha-actin-1; nemaline myopathy type 3
基因别名: AA959943; ACTA; Acta-2; ACTA1; Acts; Actsk-1; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM
UniProt ID: (Human) P68133, (Mouse) P68134, (Rat) P68136
Entrez Gene ID: (Human) 58, (Mouse) 11459, (Rat) 29437