人 ITPR1 (NM_001099952) cDNA克隆

Accession: NM_001099952
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 1, mRNA.
种属: Human
CDS区长度: 8133 (查看编码区序列)
翻译后氨基酸长度: 2710 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes isoform 1.
产品编号 产品名称 载体 规格 价格
G150957 人 ITPR1 (NM_001099952) cDNA克隆 pDONR223 2ug质粒 点击询价

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]