🧬 基因注释：TRPV4
📝 官方信息
官方名称：transient receptor potential cation channel subfamily V member 4
功能摘要：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].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录