Transient receptor potential cation channel, subfamily V, member 4
Gene Summary
TRPV4 is a non-selective calcium permeant cation channel probably involved in osmotic sensitivity and mechanosensitivity. Activation of TRPV4 by exposure to hypotonicity within the physiological range exhibits an outward rectification. TRPV4 also activated by low pH, citrate and phorbol esters and increase of intracellular Ca2+ potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism.Defects in TRPV4 are the cause of brachyolmia type 3 (BRAC3) 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. Two transcript variants encoding different isoforms have been found for this gene.