TRPV4(redirected from CMT2C)
TRPV4A gene on chromosome 12q24.1 that encodes a calcium-permeable, non-selective cation channel thought to be involved in regulating systemic osmotic pressure. It is activated by exposure to hypotonicity within the physiological range, as well as by low pH, citrate and phorbol esters. Channel activity may be a calmodulin-dependent mechanism with a negative feedback control. TRPV4 promotes cell–cell junction formation in the skin and plays an important role in forming and maintaining intercellular barriers; it also regulates intracellular Ca2+ and hypotonic stimulation in synoviocytes and regulates production of IL-8.
TRPV4 mutations cause spondylometaphyseal and metatropic dysplasia, and hereditary motor and sensory neuropathy type IIC.
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