人 FKRP (NM_024301) cDNA克隆

Accession: NM_024301
基因名称: FKRP
基因别名: MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5
基因描述: Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1488 (查看编码区序列)
翻译后氨基酸长度: 495 (查看氨基酸序列)
Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
产品编号 产品名称 载体 规格 价格
G165301 人 FKRP (NM_024301) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. 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]