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Beschreibung

Transient receptor potential cation channel subfamily V member 4 is a multitransmembrane non-selective cation channel encoded by the TRPV4 (also known as CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VR-OAC, VRL-2, VRL2, VROAC) gene and belong to the OSM9-like transient receptor potential channel (OTRPC) subfamily within the transient receptor potential (TRP)3 superfamily of channels. Ankyrin (ANK) repeats/domains are shown to be important for functional channel expression, and ANK domain mutations are found in patients suffering from Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN). (PMID 16293632, 20037587, 20037588).