| Gene Symbol |
TRPV4
|
| Gene Synonyms |
SMAL VRL2 BCYM3 CMT2C SPSMA TRP12 VROAC HMSN2C OTRPC4 SSQTL1 |
| Gene Full Name |
transient receptor potential cation channel subfamily V member 4 |
| Gene Summary |
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] |
| Molecular Weight(MW) |
102 kDa(Observed band size: kDa) |
| Function |
TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) is a cation-selective channel, activated in response to systemic osmotic pressure. Non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. TRPV4 is a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The TRPV4 protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in the TRPV4 gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Diseases associated with TRPV4 include Metatropic Dysplasia and Spondylometaphyseal Dysplasia, Kozlowski Type. Multiple transcript variants encoding different isoforms have been found for this gene. |
| Cellular Localization |
Cell junction,Cell membrane,Cell projection,Cilium,Endoplasmic reticulum,Membrane |