Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Nyctalopin (NYX)

Recent update from: 18.03.2001

NYX

Notes

Signal peptide include AA 1-23
Expression detected only in retina and kidney
in-situ hybridization showed expression in IS, ONL, INL, and GCL
May function as an adhesion molecule specifying the formation of synapses between neurons for the development of the ON-pathway circuitry of the retina
Alternatively, being a ligand, receptor or cofactor in a cell-signalling pathway common to retinal and renal development

Species: Homo sapiens

See also:

Chromosomal localisation	in man: Xp11.4
	in mouse:

Gene Data

ORF: 1,443 bp

Exons: 3

Primers:

Protein Data

Amino acids: 481 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

NYX

Notes

Low level expression in
- retina
- brain
- testis
- muscle
GPI-anchored extracellular protein
11 typical and 2 Cys -rich LRR
Possibly involved in exon guidance
Homology to GARP
No signal in fovea-enriched library => maybe not expressed in cells of the cone photoreceptor pathway
N-terminal signal peptide

Species: Homo sapiens

See also:

Chromosomal localisation	in man: Xp11.4
	in mouse:

Gene Data

Exons: 3

Primers:

Protein Data

Amino acids: 481 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

References:

. 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., and Weleber,R.G. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 2000; Nat.Genet. 26: 319-323.
Link to PudMed
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. 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., and Meindl,A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 2000; Nat.Genet. 26: 324-327.
Link to PudMed
Goto Top

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Contact the editor: irpamp@irpa.org	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz