NYX (gene)

From Wikipedia, the free encyclopedia

Nyctalopin

Identifiers

NYX; CLRP; CSNB1; CSNB4; MGC138447

External IDs

OMIM: 300278 MGI: 2448607 HomoloGene: 11210

Gene ontology
Molecular Function:	• molecular_function • protein binding
Cellular Component:	• proteinaceous extracellular matrix • intracellular
Biological Process:	• visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_022567 (mRNA)
NP_072089 (protein)

XM_981769 (mRNA)
XP_986863 (protein)

Location

Chr X: 41.19 - 41.22 Mb

Chr X: 12.64 - 12.64 Mb

Pubmed search

[1]

[2]

Nyctalopin, also known as NYX, is a human gene.^[1]

[edit] References

^ Entrez Gene: NYX nyctalopin.

[edit] Further reading

Musarella MA, Weleber RG, Murphey WH, et al. (1990). "Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.". Genomics 5 (4): 727–37. PMID 2574143.
Hardcastle AJ, David-Gray ZK, Jay M, et al. (1998). "Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.". Invest. Ophthalmol. Vis. Sci. 38 (13): 2750–5. PMID 9418727.
Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. (2000). "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.". Nat. Genet. 26 (3): 319–23. doi:10.1038/81619. PMID 11062471.
Pusch CM, Zeitz C, Brandau O, et al. (2000). "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. 26 (3): 324–7. doi:10.1038/81627. PMID 11062472.
Jacobi FK, Andréasson S, Langrova H, et al. (2003). "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. 240 (10): 822–8. doi:10.1007/s00417-002-0562-z. PMID 12397430.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Gregg RG, Mukhopadhyay S, Candille SI, et al. (2003). "Identification of the gene and the mutation responsible for the mouse nob phenotype.". Invest. Ophthalmol. Vis. Sci. 44 (1): 378–84. PMID 12506099.
Zito I, Allen LE, Patel RJ, et al. (2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families.". Hum. Mutat. 21 (2): 169. doi:10.1002/humu.9106. PMID 12552565.
Zeitz C, Scherthan H, Freier S, et al. (2003). "NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.". Invest. Ophthalmol. Vis. Sci. 44 (10): 4184–91. PMID 14507859.
Khan NW, Kondo M, Hiriyanna KT, et al. (2005). "Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.". J. Neurophysiol. 93 (1): 481–92. doi:10.1152/jn.00365.2004. PMID 15331616.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Zeitz C, Minotti R, Feil S, et al. (2005). "Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.". Mol. Vis. 11: 179–83. PMID 15761389.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.
Morgans CW, Ren G, Akileswaran L (2006). "Localization of nyctalopin in the mammalian retina.". Eur. J. Neurosci. 23 (5): 1163–71. doi:10.1111/j.1460-9568.2006.04647.x. PMID 16553780.
Xiao X, Jia X, Guo X, et al. (2006). "CSNB1 in Chinese families associated with novel mutations in NYX.". J. Hum. Genet. 51 (7): 634–40. doi:10.1007/s10038-006-0406-5. PMID 16670814.
Zhang Q, Xiao X, Li S, et al. (2007). "Mutations in NYX of individuals with high myopia, but without night blindness.". Mol. Vis. 13: 330–6. PMID 17392683.