Gene Symbol | TRPV4 |
Entrez Gene ID | 59341 |
Full Name | transient receptor potential cation channel subfamily V member 4 |
Synonyms | BCYM3,CMT2C,HMSN2C,OTRPC4,SMAL,SPSMA,SSQTL1,TRP12,VRL2,VROAC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Brachyolmia type 3, 113500 (3); Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3); Metatropic dysplasia, 156530 (3); Hereditary motor and sensory neuropathy, type IIc, 606071 (3); Scapuloperoneal spinal muscular atrophy, 181405 (3); [Sodium serum level QTL 1], 613508 (3); Parastremmatic dwarfism, 168400 (3); SED, Maroteaux type, 184095 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3); Digital arthropathy-brachydactyly, familial, 606835 (3); ?Avascular necrosis of femoral head, primary, 2, 617383 (3) |