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TRPV4
Transient receptor potential cation channel subfamily V member 4 is an ion channel protein that in humans is encoded by the ''TRPV4'' gene, co-discovered by, see also This gene encodes TRPV4, initially named vanilloid-receptor related osmotically activated channel (VR-OAC), and OSM9-like transient receptor potential channel, member 4 (OTRPC4), a member of the vanilloid subfamily in the transient receptor potential (TRP) superfamily of ion channels.〔 The encoded protein is a Ca2+-permeable, nonselective cation channel that has been found involved in multiple physiologic functions, dysfunctions and also disease. It functions in the regulation of systemic osmotic pressure by the brain, in vascular function, in liver, intestinal, renal and bladder function, in skin barrier function and response of the skin to ultraviolet-B radiation, in growth and structural integrity of the skeleton, in function of joints, in airway- and lung function, in retinal and inner ear function, and in pain. The channel is activated by osmotic, mechanical and chemical cues. It also responds to thermal changes (warmth). Channel activation can be sensitized by inflammation and injury. Hereditary channelopathy mutations of TRPV4 lead to skeletal dysplasias, premature osteoarthritis, and neurological motor function disorders as a manifestation of a motor neuropathy or spinal muscle atrophy. == Clinical significance ==
Mutations in the ''TRPV4'' gene are associated with a range of disorders, including brachyolmia type 3, congenital distal spinal muscular atrophy, scapuloperoneal spinal muscular atrophy and subtype 2C of Charcot–Marie–Tooth disease.
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