Nyctalopin is a protein located on the surface of photoreceptor-to-ON bipolar cell synapse in the retina. It is composed of 481 amino acids.[1] and is encoded in human by the NYXgene.[2][3][4] This gene is found on the chromosome X[5] and has two exons.[1] This protein is a leucine-rich proteoglycan[6] which is expressed in the eye, spleen and brain in mice.[7]Mutations in this gene cause congenital stationary night blindness in humans (CSNB).[8] which is a stable retinal disorder.[2] The consequence of this mutation results in an abnormal night vision. Nyctalopin is critical due to the fact that it generates a depolarizing bipolar cell response due to the mutation on the NYX gene.[6] Most of the time, CSNB are associated to hygh myopia which is the result of a mutation on the same gene.[1] Several mutations can occur on the NYX gene resulting on many form of night blindness in humans.[1] Some studies show that these mutations are more present in Asian population than in Caucasian population.[1] A mouse strain called nob (no b-wave) carries a spontaneous mutation leading to a frameshift in this gene. These mice are used as an animal model for congenital stationary night blindness.[9]
^ abBech-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 (November 2000). "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness". Nature Genetics. 26 (3): 319–23. doi:10.1038/81619. PMID11062471. S2CID10223880.
^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 (November 2000). "The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein". Nature Genetics. 26 (3): 324–7. doi:10.1038/81627. PMID11062472. S2CID42428370.
^Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM (October 2002). "Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene". Graefe's Archive for Clinical and Experimental Ophthalmology. 240 (10): 822–8. doi:10.1007/s00417-002-0562-z. PMID12397430. S2CID25140284.
