人 CTNS (NM_004937) cDNA克隆

基本信息

Accession: NM_004937
基因名称: CTNS
基因别名: PQLC4; CTNS-LSB
基因描述: Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1104 (查看编码区序列)
翻译后氨基酸长度: 367 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR and 3' coding region, compared to variant 1, resulting in an isoform (2) with a distinct and shorter C-terminus, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G110676 人 CTNS (NM_004937) 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 CTNS (NM_001031681) cDNA克隆 transcript variant 1
人 CTNS (NM_004937) cDNA克隆 transcript variant 2

基因简介

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

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