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.
