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Retina International's Scientific Newsletter |
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The Protein Pages Retinal Nuclear Receptor (NR2E3) To see compiled data on further species click on the topics.
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Retina International's Scientific Newsletter |
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The Protein Pages Retinal Nuclear Receptor (NR2E3) To see compiled data on further species click on the topics.
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Recent update from: 21.03.2000
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Description
NR2E3 (or PNR) is a protein of yet unknown function which shows expression in the ONL. A possible function in cone development is discussed. Exons: Markers / RFLPs: Transcripts: 2.2 kb mRNA
Regulatory elements:
Primers: |
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| Assignment: 15q23 | Involvement in Retinal Degenerations:
click here to see a compilation of
several Mutations found to underlie |
| Subunits: | Amino acids: |
| Modifications:
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Mr/ Weight:
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| Cofactors:
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Click on entry to see database record online
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| Protein / Gene | Subtype | Gene symbol | Species | Enzyme code | Swissprot | PIR | Prosite |
Click on entry to see database record online
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| Protein / Gene | Subtype | Gene symbol | Species | GenBank | Medline |
| Photoreceptor cell-specific Nuclear Receptor | NR2E3, PNR | Homo sapiens | AF121130
AF121129 |
99238440 |
Click on entry to see database record online
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| Protein / Gene | Subtype | Gene symbol | Species | Genome Database (GDB) | Mouse Genome Database | OMIM |
| Photoreceptor cell-specific Nuclear Receptor | NR2E3, PNR | Homo sapiens | 604485 |
1. Haider, N.B., Jacobson, S.G., Cideciyan, A.V., Swiderski, R., Streb, L.M., Searby, C., Beck, G., Hockey, R., Hanna, D.B., Gorman, S., Duhl, D., Carmi, R., Bennett, J., Weleber, R.G., Fishman, G.A., Wright, A.F., Stone, E.M., and Sheffield, V.C. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 2000; Nat.Genet. 24: 127 - 131.
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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 |
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