人 RIMS1 (NM_001168411) cDNA克隆

Accession: NM_001168411
基因名称: RIMS1
基因别名: RIM; RIM1; CORD7; RAB3IP2
基因描述: Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 6, mRNA.
种属: Human
CDS区长度: 660 (查看编码区序列)
翻译后氨基酸长度: 219 (查看氨基酸序列)
Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (6) is shorter at the N-terminus compared to isoform 1.
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G139862 人 RIMS1 (NM_001168411) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]