1 | OCA6, SLC24A5
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| Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6
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| Saito T, Okamura K, Kosaki R, Wakamatsu K, Ito S, Nakajima O, Yamashita H, Hozumi Y, Suzuki T.
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| Pigment Cell Melanoma Res. Mar;35(2):212-219. doi: 10.1111/pcmr.13024. Epub 2021 Dec 27. 2022
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2 | LRMDA, OCA2, SLC24A5, TYRP1
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| Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
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| Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA.
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| PLoS One. Sep 23;15(9):e0238529. doi: 10.1371/journal.pone.0238529. 2020
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3 | LRMDA, OCA1, OCA2, OCA3, OCA4, OCA6, OCA7, SLC24A5, SLC45A2, TYR, TYRP1
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| Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis
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| Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J
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| Pigment Cell Melanoma Res. Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29 2019
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4 | SLC24A5
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| Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.
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| Zhang Z, Gong J, Sviderskaya EV, Wei A, Li W.
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| J Cell Sci. Jul 15;132(14):jcs232009. doi: 10.1242/jcs.232009. 2019
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5 | SLC24A5
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| Cellular localization of the K+ -dependent Na+ -Ca2+ exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells
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| Rogasevskaia TP, Szerencsei RT, Jalloul AH, Visser F, Winkfein RJ, Schnetkamp PPM.
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| Pigment Cell Melanoma Res. Jan;32(1):55-67. doi: 10.1111/pcmr.12723. Epub 2018 Jul 25 2019
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6 | OCA6, SLC24A5
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| Loci associated with skin pigmentation identified in African populations.
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| Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA.
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| Science Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Erratum in: Science. 2020 Jan 17;367(6475) 2017
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7 | SLC24A5
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| SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
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| Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B.
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| J Invest Dermatol. Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. 2014
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8 | SLC24A5
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| SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.
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| Ginger RS, Askew SE, Ogborne RM, Wilson S, Ferdinando D, Dadd T, Smith AM, Kazi S, Szerencsei RT, Winkfein RJ, Schnetkamp PP, Green MR.
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| J Biol Chem 283(9):5486-95. Epub 2007 Dec 28. 2008
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9 | SLC24A5
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| A genomewide association study of skin pigmentation in a South Asian population.
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| Stokowski RP, Pant PV, Dadd T, Fereday A, Hinds DA, Jarman C, Filsell W, Ginger RS, Green MR, van der Ouderaa FJ, Cox DR.
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| Am J Hum Genet 81(6):1119-32. Epub 2007 Oct 15.
2007
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10 | SLC24A1, SLC24A2, SLC24A3, SLC24A4, SLC24A5, SLC8A1, SLC8A2, SLC8A3, SLC8B1
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| Na+/Ca2+ exchangers: three mammalian gene families control Ca2+ transport.
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| Lytton J.
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| Biochem J 406(3):365-82. Review. 2007
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11 | SLC24A1, SLC24A2, SLC24A3, SLC24A4, SLC24A5, SLC8B1
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| Novel role for K+-dependent Na+/Ca2+ exchangers in regulation of cytoplasmic free Ca2+ and contractility in arterial smooth muscle.
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| Dong H, Jiang Y, Triggle CR, Li X, Lytton J.
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| Am J Physiol Heart Circ Physiol 291(3):H1226-35. Epub 2006 Apr 14. 2006
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12 | SLC24A5
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| SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans.
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| Lamason RL, Mohideen MA, Mest JR, Wong AC, Norton HL, Aros MC, Jurynec MJ, Mao X, Humphreville VR, Humbert JE, Sinha S, Moore JL, Jagadeeswaran P, Zhao W, Ning G, Makalowska I, McKeigue PM, O'donnell D, Kittles R, Parra EJ, Mangini NJ, Grunwald DJ, Shriver MD, Canfield VA, Cheng KC.
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| Science 310(5755):1782-6.
2005
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13 | SLC24A1, SLC24A2, SLC24A3, SLC24A4, SLC24A5, SLC8B1
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| Topology of the retinal cone NCKX2 Na/Ca-K exchanger.
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| Kinjo TG, Szerencsei RT, Winkfein RJ, Kang K, Schnetkamp PP.
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| Biochemistry 42(8):2485-91. 2003
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