Nyctalopin

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Nyctalopin
Identifiers
Symbols NYX ; CLRP; CSNB1; CSNB1A; CSNB4; NBM1
External IDs OMIM300278 MGI2448607 HomoloGene11210 GeneCards: NYX Gene
RNA expression pattern
PBB GE NYX 221684 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 60506 236690
Ensembl ENSG00000188937 ENSMUSG00000051228
UniProt Q9GZU5 P83503
RefSeq (mRNA) NM_022567 NM_173415
RefSeq (protein) NP_072089 NP_775591
Location (UCSC) Chr X:
41.45 – 41.48 Mb
Chr X:
13.47 – 13.49 Mb
PubMed search [1] [2]

Nyctalopin is a protein that in humans is encoded by the NYX gene.[1][2][3] It is a leucine-rich proteoglycan which is expressed in the eye, spleen and brain in mice.[4] 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.[5]


References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: NYX nyctalopin". 
  4. ^ 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. 
  5. ^ 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. 

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