人 ITPR1 (NM_001168272) cDNA克隆

Accession: NM_001168272
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 3, mRNA.
种属: Human
CDS区长度: 8232 (查看编码区序列)
翻译后氨基酸长度: 2743 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate in-frame exon, uses an alternate in-frame splice site and includes three additional exons in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.
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G150955 人 ITPR1 (NM_001168272) 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]