TRP gene family

Genes in the TRP family provide instructions for making a group of proteins called transient receptor potential cation channels. These channels transport positively charged atoms (cations) across membranes, most commonly the outer membrane that surrounds cells. Most TRP channels transport calcium, although some transport other cations such as sodium, magnesium, or iron. TRP channels are found in virtually every cell type in the body.

TRP channels have a large variety of functions. Many of these channels play a role in the body's ability to sense stimuli from the surrounding environment, such as pain, temperature, and taste. Other TRP channels are involved in maintaining a balance of various molecules in the body, including water balance (osmoregulation) and the reabsorption of calcium and magnesium by the kidneys. Still other TRP channels play roles in activities related to cell movement, such as the tensing of muscle fibers (muscle contraction).

Six subfamilies of TRP channels are recognized in humans: TRPC (canonical), TRPV (vanilloid), TRPM (melastatin), TRPA (ankyrin), TRPP (polycystin), and TRPML (mucolipin). These subfamilies are defined based on similarities with channels in other organisms, associations with specific human diseases, or structural features of the channels.

A variety of human diseases have been associated with changes in TRP genes. For example, mutations in the MCOLN1 gene result in mucolipidosis type IV, a disorder characterized by delayed development and progressive vision loss. TRPV4 gene mutations are associated with several skeletal and neurologic disorders. Mutations in two TRP genes, PKD1 and PKD2, can cause an inherited kidney disorder called polycystic kidney disease. Changes in other TRP gene family members have been associated with familial episodic pain syndrome and forms of hearing loss, vision loss, cancer, kidney disease, and cardiovascular disease.