人 ITPR1 (NM_002222) cDNA克隆

基本信息

Accession: NM_002222
基因名称: ITPR1
基因别名: IP3R; IP3R1; SCA15; SCA16; SCA29; INSP3R1
基因描述: Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 8088 (查看编码区序列)
翻译后氨基酸长度: 2695 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G150956 人 ITPR1 (NM_002222) 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 ITPR1 (NM_001099952) cDNA克隆 transcript variant 1
人 ITPR1 (NM_002222) cDNA克隆 transcript variant 2
人 ITPR1 (NM_001168272) cDNA克隆 transcript variant 3

基因简介

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

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