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The Protein Pages

Norrin (NDP)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 28.06.00

Description

Norrin is a protein expressed in eye, brain, inner ear and nasal epithelium with homologies to cystein knot growth factors(4).

GENE DATA

Exons: 3

Markers / RFLPs: tel
- DXS7 (L1.28)
- MAOB
- NDP
- DXS426
-cen

Transcripts:

Regulatory elements:

TATA-box at -85

Primers: Exons 1 - 3, coding

Chromosome X with Norrin
Assignment: Xp11.4 Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

PROTEIN DATA
Subunits: 1 Amino acids: 133
Modifications:


Mr/ Weight:


Cofactors:



PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Norrie Disease Protein
NDP Homo sapiens EC- Q00604 A57005 S30390 S30388 PS01185 PS01225
Norrie Disease Protein
NDP Mus musculus EC- P48744 S55380 PS01185 PS01225

GENE DATA

Click on entry to see database record online
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Gene Subtype Locus Species Genbank Unigene Medline
Norrie Disease Protein
NDP Homo sapiens S63178 X65882 S63169 S61557 S63170 S63175 S63176 S63177 S63178 X65724 T28124 NM_000266 Hs.2839 93300535 93265104
Norrie Disease Protein
NDP Mus musculus X92397 X83794
96432457 96381426

GENE LOCUS DATA

Click on entry to see database record online
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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
Norrie Disease Protein
NDP Homo sapiens 119449
310600 4693
Norrie Disease Protein
NDP Mus musculus
Ndph

References:
1. Berger,W., Meindl,A., van de Pol,T.J., Cremers,F.P., Ropers,H.H., Doerner,C., Monaco,A., Bergen,A.A.B., Lebo,R., Warburg,M., and et al. Isolation of a candidate gene for Norrie disease by positional cloning. 1992; Nat.Genet. 1: 199-203.
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2. Berger,W., van de Pol,D., Warburg,M., Gal,A., Bleeker Wagemakers,L., de Silva,H., Meindl,A., Meitinger,T., Cremers,F., and Ropers,H.H. Mutations in the candidate gene for Norrie disease. 1992; Hum.Mol.Genet. 1: 461-465.
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3. Chen,Z.Y., Hendriks,R.W., Jobling,M.A., Powell,J.F., Breakefield,X.O., Sims,K.B., and Craig,I.W. Isolation and characterization of a candidate gene for Norrie disease. 1992; Nat.Genet. 1: 204-208.
Goto Top Link to PudMed
4. Rehm,H.L. and Morton,C.C. An expression cloning approach to identify a receptor for norrin, the protein responsible for Norrie disease. 1998; Am.J.Hum.Genet. 63: A190
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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