Nyctalopin

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NYX
Identifiers
Aliases NYX, CLRP, CSNB1, CSNB1A, CSNB4, NBM1, nyctalopin
External IDs MGI: 2448607 HomoloGene: 11210 GeneCards: NYX
RNA expression pattern
PBB GE NYX 221684 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022567

NM_173415

RefSeq (protein)

NP_072089

NP_775591.1
NP_775591

Location (UCSC) Chr X: 41.45 – 41.48 Mb Chr X: 13.47 – 13.49 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Nyctalopin is a protein that in humans is encoded by the NYX gene.[3][4][5] It is a leucine-rich proteoglycan which is expressed in the eye, spleen and brain in mice.[6] Mutations in this gene cause congenital stationary night blindness in humans. 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.[7]


References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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 (Dec 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. 
  4. ^ 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 (Dec 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. 
  5. ^ "Entrez Gene: NYX nyctalopin". 
  6. ^ Pesch K, Zeitz C, Fries JE, et al. (May 2003). "Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina". Invest. Ophthalmol. Vis. Sci. 44 (5): 2260–6. doi:10.1167/iovs.02-0115. PMID 12714669. 
  7. ^ Pardue MT, McCall MA, LaVail MM, Gregg RG, Peachey NS (November 1998). "A naturally occurring mouse model of X-linked congenital stationary night blindness". Invest. Ophthalmol. Vis. Sci. 39 (12): 2443–9. PMID 9804152. 

External links[edit]

Further reading[edit]