nyctalopin
Última atualização 21 Jun 2024
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The NYX gene provides instructions for making a protein called nyctalopin, which plays an important role in a specialized tissue at the back of the eye called the retina. Within the retina, nyctalopin is located on cells called bipolar cells, which relay signals to other retinal cells. The retina contains two types of photoreceptors: rods and cones. Rods are needed for vision in low light. Cones are needed for vision in bright light, including colour vision.
Normal function
The NYX gene provides instructions for making a protein called nyctalopin, which plays an important role in a specialized tissue at the back of the eye called the retina. Within the retina, nyctalopin is located on cells called bipolar cells, which relay signals to other retinal cells. The retina contains two types of photoreceptors: rods and cones. Rods are needed for vision in low light. Cones are needed for vision in bright light, including colour vision.
Nyctalopin plays a critical role in normal vision. Studies suggest the protein helps relay visual signals from rods and cones to bipolar cells. This signaling is an essential step in the transmission of visual information from the eyes to the brain.
Conditions referring to this gene or chromosome
Other names
CLRP
NYX_HUMAN
Leitura adicional e referências
- nyctalopin; MedlinePlus, National Library of Medicine.
- Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619.
- Jacobi FK, Andreasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. doi: 10.1007/s00417-002-0562-z. Epub 2002 Sep 21.
- Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Congenital Stationary Night Blindness: Clinical and Genetic Features. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965.
- Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. A common NYX mutation in Flemish patients with X linked CSNB. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10.
- MacDonald IM, Hoang S, Tuupanen S. X-Linked Congenital Stationary Night Blindness. 2008 Jan 16 [updated 2019 Jul 3]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1245/
- Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ. Focus on molecules: nyctalopin. Exp Eye Res. 2005 Dec;81(6):627-8. doi: 10.1016/j.exer.2005.07.017. Epub 2005 Sep 12. No abstract available.
- Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000 Nov;26(3):324-7. doi: 10.1038/81627.
- Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q. CSNB1 in Chinese families associated with novel mutations in NYX. J Hum Genet. 2006;51(7):634-40. doi: 10.1007/s10038-006-0406-5. Epub 2006 May 3.
- Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13.
- Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF. Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis. 2007 Mar 1;13:330-6.
- Zhou L, Li T, Song X, Li Y, Li H, Dan H. NYX mutations in four families with high myopia with or without CSNB1. Mol Vis. 2015 Mar 5;21:213-23. eCollection 2015.
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