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]
Function
ATP binding; SH2 domain binding; actin binding; actin filament binding; alpha-tubulin binding; beta-tubulin binding; calcium channel activity; calmodulin binding; cation channel activity; microtubule binding; osmosensor activity; protein kinase C binding; protein kinase binding
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