人 CLCN5 (NM_001272102) cDNA克隆

Accession: NM_001272102
基因名称: CLCN5
基因别名: XRN; CLC5; XLRH; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; hCIC-K2
基因描述: Homo sapiens chloride channel, voltage-sensitive 5 (CLCN5), transcript variant 5, mRNA.
种属: Human
CDS区长度: 195 (查看编码区序列)
翻译后氨基酸长度: 64 (查看氨基酸序列)
Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, it lacks several 3' exons but has an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct and shorter C-terminus, compared to isoform a.
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G122256 人 CLCN5 (NM_001272102) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]