人 MYOT (NM_001135940) cDNA克隆

基本信息

Accession: NM_001135940
基因名称: MYOT
基因别名: MFM3; TTID; TTOD; LGMD1; LGMD1A
基因描述: Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.
种属: Human
CDS区长度: 945 (查看编码区序列)
翻译后氨基酸长度: 314 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G106879 人 MYOT (NM_001135940) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 MYOT (NM_006790) cDNA克隆 transcript variant 1
人 MYOT (NM_001135940) cDNA克隆 transcript variant 2

基因简介

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]

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