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Gene Review

NYX  -  nyctalopin

Homo sapiens

Synonyms: CLRP, CSNB1, CSNB1A, CSNB4, NBM1, ...
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Disease relevance of NYX

  • Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness [1].
  • The cone related components and the OP characteristics clearly distinguish iCSNB from the complete form of CSNB and other retinal conditions presenting with minimal fundus abnormalities but with negative bright-flash ERG responses, such as found in Duchenne muscular dystrophy and Aland Island eye disease [2].
  • Transcripts are localized primarily to cells within the outer half of the inner nuclear layer (INL) and the ganglion cell layer (GCL), a pattern consistent with the principal electrophysiologic findings in CSNB1 that suggest a main defect in depolarizing ON-bipolar cells normally located in the outer half of the INL [3].
  • Keratoconus associated with CSNB1 [4].

High impact information on NYX

  • These two genetic subtypes can be distinguished on the basis of electroretinogram (ERG) responses and psychophysical testing as a complete (CSNB1) and an incomplete (CSNB2) form [5].
  • This gene, designated NYX, encodes a protein of 481 amino acids (nyctalopin) and is expressed at low levels in tissues including retina, brain, testis and muscle [5].
  • Two of the daughters who manifested with CSNB had inherited the other maternal X chromosome (M1) [6].
  • One of the affected daughters' sons had inherited the maternal M1 X chromosome, a finding consistent with that chromosome carrying a mutant CSNB gene; the other affected sons inherited the grandfather's X chromosome (i.e., P) [6].
  • Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein [7].

Chemical compound and disease context of NYX


Biological context of NYX

  • RESULTS: Informative recombinations in this family define a locus for CSNBX (CSNB4) with flanking markers DXS556 and DXS8080 on Xp11.4 to Xp11.3, an interval spanning approximately 5 to 6 cM [9].
  • Moreover, computer-based analysis of the orthologue mouse amino acid sequence did not reveal a GPI anchor, which may result in a different protein localization compared with human NYX [10].
  • Molecular genetic testing by denaturing high performance liquid chromatography (DHPLC), single stranded conformation polymorphism (SSCP) analysis, and direct sequencing of the CACNA1F and NYX genes were performed in the patients possessing a negative Schubert Bornschein ERG [11].
  • PURPOSE: To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene [12].
  • Electrophysiological and psychophysical evidence of a functioning but impaired rod system was present in subjects from each genotype group, although the responses tended to be more severely affected in subjects with NYX gene mutations [13].

Anatomical context of NYX

  • The human NYX protein has been predicted to contain an N-terminal endoplasmic reticulum (ER) signaling sequence and a C-terminal glycosylphosphatidylinositol (GPI) anchor [10].
  • All 3 CSNB patients with evidence for optic nerve fibre mis-routing had X-linked pedigrees: 2 had an identified mutation in the NYX gene but no mutation in either the NYX or CACNA1F genes was identified in the third [14].
  • The current study provides evidence to suggest that a defective NYX gene product (nyctalopin) prevents detectable signal transmission through ON rod bipolar cells, but there is a residual transmission through rod-cone gap junctions in CSNB1, possibly through the OFF cone pathway [15].
  • Nyctalopin is of unknown function but is predicted to be a secreted glycoprotein of the extracellular small leucine-rich repeat (SLRP) proteoglycan and protein family attached to the cell membrane in humans via a glycosylphosphatidylinositol (GPI) anchor but in mouse via a transmembrane domain [7].
  • In the brain, CLRP mRNA is expressed by limited sets of neurons, such as the pyramidal cells of the cortex, the Purkinje cells of the cerebellum, and the motoneurons of the brainstem [16].

Associations of NYX with chemical compounds


Other interactions of NYX

  • CONCLUSIONS: The results describe a new localization for CSNBX (CSNB4) between the RP2 and RP3 loci on proximal Xp [9].
  • Deletion screening via Southern blotting and direct sequencing of GPR34 revealed no mutations in 19 unrelated men with CSNB1, excluding a causal role in the disease [18].
  • The importance of associated myopia with NYX mutations is discussed [19].
  • X-linked congenital stationary night blindness (CSNB) and NYX mutation have not been reported in Chinese. Here, two Chinese families with the complete form of CSNB (CSNB1) are presented [19].
  • Cone reponses were largely unaffected in the NYX group but were abnormal in the RS1 and especially CACNA1F groups [20].

Analytical, diagnostic and therapeutic context of NYX


  1. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Sparkes, R.L., Koop, B., Birch, D.G., Bergen, A.A., Prinsen, C.F., Polomeno, R.C., Gal, A., Drack, A.V., Musarella, M.A., Jacobson, S.G., Young, R.S., Weleber, R.G. Nat. Genet. (2000) [Pubmed]
  2. The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Tremblay, F., Laroche, R.G., De Becker, I. Vision Res. (1995) [Pubmed]
  3. Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. Bech-Hansen, N.T., Cockfield, J., Liu, D., Logan, C.C. Mamm. Genome (2005) [Pubmed]
  4. Keratoconus associated with CSNB1. Nguyen, D.Q., Hemmerdinger, C., Hagan, R.P., Brown, M.C., Quah, S.A., Kaye, S.B. The British journal of ophthalmology (2007) [Pubmed]
  5. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Pusch, C.M., Zeitz, C., Brandau, O., Pesch, K., Achatz, H., Feil, S., Scharfe, C., Maurer, J., Jacobi, F.K., Pinckers, A., Andreasson, S., Hardcastle, A., Wissinger, B., Berger, W., Meindl, A. Nat. Genet. (2000) [Pubmed]
  6. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. Bech-Hansen, N.T., Pearce, W.G. Am. J. Hum. Genet. (1993) [Pubmed]
  7. Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. O'Connor, E., Eisenhaber, B., Dalley, J., Wang, T., Missen, C., Bulleid, N., Bishop, P.N., Trump, D. Hum. Mol. Genet. (2005) [Pubmed]
  8. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. Khan, N.W., Kondo, M., Hiriyanna, K.T., Jamison, J.A., Bush, R.A., Sieving, P.A. J. Neurophysiol. (2005) [Pubmed]
  9. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Hardcastle, A.J., David-Gray, Z.K., Jay, M., Bird, A.C., Bhattacharya, S.S. Invest. Ophthalmol. Vis. Sci. (1997) [Pubmed]
  10. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Zeitz, C., Scherthan, H., Freier, S., Feil, S., Suckow, V., Schweiger, S., Berger, W. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  11. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Zeitz, C., Minotti, R., Feil, S., Mátyás, G., Cremers, F.P., Hoyng, C.B., Berger, W. Mol. Vis. (2005) [Pubmed]
  12. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Jacobi, F.K., Andréasson, S., Langrova, H., Meindl, A., Zrenner, E., Apfelstedt-Sylla, E., Pusch, C.M. Graefes Arch. Clin. Exp. Ophthalmol. (2002) [Pubmed]
  13. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. Allen, L.E., Zito, I., Bradshaw, K., Patel, R.J., Bird, A.C., Fitzke, F., Yates, J.R., Trump, D., Hardcastle, A.J., Moore, A.T. The British journal of ophthalmology. (2003) [Pubmed]
  14. Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? Ung, T., Allen, L.E., Moore, A.T., Trump, D., Yates, J., Bradshaw, K. Documenta ophthalmologica. Advances in ophthalmology. (2005) [Pubmed]
  15. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. Scholl, H.P., Langrová, H., Pusch, C.M., Wissinger, B., Zrenner, E., Apfelstedt-Sylla, E. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  16. Cloning of the cDNA and mRNA expression of CLRP, a complex leucine repeat protein of the Golgi apparatus expressed by specific neurons of the rat brain. Pérez-Márquez, J., Reguillo, B., Paniagua, R. J. Neurobiol. (2002) [Pubmed]
  17. Localization of nyctalopin in the mammalian retina. Morgans, C.W., Ren, G., Akileswaran, L. Eur. J. Neurosci. (2006) [Pubmed]
  18. Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. Jacobi, F.K., Broghammer, M., Pesch, K., Zrenner, E., Berger, W., Meindl, A., Pusch, C.M. Hum. Genet. (2000) [Pubmed]
  19. CSNB1 in Chinese families associated with novel mutations in NYX. Xiao, X., Jia, X., Guo, X., Li, S., Yang, Z., Zhang, Q. J. Hum. Genet. (2006) [Pubmed]
  20. A comparison of ERG abnormalities in XLRS and XLCSNB. Bradshaw, K., Allen, L., Trump, D., Hardcastle, A., George, N., Moore, A. Documenta ophthalmologica. Advances in ophthalmology. (2004) [Pubmed]
  21. Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. Bahadori, R., Biehlmaier, O., Zeitz, C., Labhart, T., Makhankov, Y.V., Forster, U., Gesemann, M., Berger, W., Neuhauss, S.C. Eur. J. Neurosci. (2006) [Pubmed]
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