人 FKTN (NM_006731) cDNA克隆

基本信息

Accession: NM_006731
基因名称: FKTN
基因别名: FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
基因描述: Homo sapiens fukutin (FKTN), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1386 (查看编码区序列)
翻译后氨基酸长度: 461 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).

订购信息

产品编号 产品名称 载体 规格 价格
G138578 人 FKTN (NM_006731) 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 FKTN (NM_001079802) cDNA克隆 transcript variant 1
人 FKTN (NM_006731) cDNA克隆 transcript variant 2
人 FKTN (NM_001198963) cDNA克隆 transcript variant 3

基因简介

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

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