人 MYOT (NM_006790) cDNA克隆

Accession: NM_006790
基因名称: MYOT
基因别名: MFM3; TTID; TTOD; LGMD1; LGMD1A
基因描述: Homo sapiens myotilin (MYOT), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1497 (查看编码区序列)
翻译后氨基酸长度: 498 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
产品编号 产品名称 载体 规格 价格
G106880 人 MYOT (NM_006790) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]