Entrez gene ID | | 59341 |
Official gene symbol | | TRPV4 |
Full name | | transient receptor potential cation channel, subfamily V, member 4 |
Aliases | | ,CMT2C,HMSN2C,OTRPC4,SPSMA,TRP12,VRL2,VROAC, |
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] |
Location | | Chromosome: 12 Locus: 12q24.1 |
Gene position | | 110271212 - 110220892 Map Viewer |
Gene orientation | | minus |
Gene size | | 50321 bp |
Gene sequence |
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OMIM ID | | 605427 |
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