Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.[5][6][7]
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The protein encoded by this gene is a member of the transient receptor potential (TRP) family of non-selective cation channels. It is expressed in the retina, in a subset of bipolar cells termed ON bipolar cells.[8][9] These cells form synapses with either rods or cones, collecting signals from them. In the dark, the signal arrives in the form of the neurotransmitter glutamate, which is detected by a G protein-coupled receptor (GPCR) signal transduction cascade. Detection of glutamate by the GPCR Metabotropic glutamate receptor 6 results in closing of the TRPM1 channel. At the onset of light, glutamate release is halted and mGluR6 is deactivated; this results in opening of the TRPM1 channel, influx of sodium and calcium, and depolarization of the bipolar cell.[10][11]
In addition to the retina, TRPM1 is also expressed in melanocytes, which are melanin-producing cells in the skin. The expression of TRPM1 is inversely correlated with melanoma aggressiveness, suggesting that it might suppress melanoma metastasis.[12] However, subsequent work showed that a microRNA located in an intron of the TRPM1 gene, rather than the TRPM1 protein itself, is responsible for the tumor suppressor function.[13][14] The expression of both TRPM1 and the microRNA are regulated by the Microphthalmia-associated transcription factor.[15][16][17][13]
Mutations in TRPM1 are associated with congenital stationary night blindness in humans [18][19][20][21] and coat spotting patterns in Appaloosa horses.[22]
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Schneider FM, Mohr F, Behrendt M, Oberwinkler J (2015). "Properties and functions of TRPM1 channels in the dendritic tips of retinal ON-bipolar cells". Eur J Cell Biol. 94 (7–9): 420–7. doi:10.1016/j.ejcb.2015.06.005. PMID 26111660.
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Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (Dec 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C (Nov 2009). "TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness". American Journal of Human Genetics. 85 (5): 720–9. doi:10.1016/j.ajhg.2009.10.013. PMC 2775830. PMID 19896113.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M (Nov 2009). "Mutations in TRPM1 are a common cause of complete congenital stationary night blindness". American Journal of Human Genetics. 85 (5): 730–6. doi:10.1016/j.ajhg.2009.10.012. PMC 2775826. PMID 19896109.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.