TRPV4
收藏rgd.mcw.edu2025-03-26 收录
下载链接：
https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1604803
下载链接
链接失效反馈官方服务：
资源简介：
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]
本基因编码了一种位于离子通道超家族的瞬态受体电位（TRP）超家族中的OSM9样瞬态受体电位通道（OTRPC）亚家族成员。编码的蛋白是一种钙离子可渗透的非选择性阳离子通道，据推测其在调节全身渗透压方面发挥作用。该基因的突变是脊椎骨和干骺端发育不良以及遗传性运动和感觉神经病IIC型发病的原因。对于该基因，已发现多种转录变体，它们编码不同的同源异构体。[由RefSeq提供，2010年4月]
提供机构：
rgd.mcw.edu
