人 TRPV4 (NM_001177431) cDNA克隆

Accession: NM_001177431
基因名称: TRPV4
基因别名: SMAL; VRL2; CMT2C; SPSMA; TRP12; VROAC; HMSN2C; OTRPC4; SSQTL1
基因描述: Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 4, mRNA.
种属: Human
CDS区长度: 2514 (查看编码区序列)
翻译后氨基酸长度: 837 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks a segment in the 5' coding region coding region, compared to variant 1. The encoded isoform (d) is shorter, compared to isoform a.
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G122364 人 TRPV4 (NM_001177431) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]