Retina International's Scientific Newsletter - Photoreceptor cell-specific Nuclear Receptor

	Retina International's Scientific Newsletter
Editor's Notes from literature on Photoreceptor cell-specific Nuclear Receptor (NR2E3, PNR)

Recent update from: 03.01.2000

NR2E3, PNR,

Notes

Expression in ONL only
Involvement in BBS4 excluded
Involvement in Enhanced S-cone Syndrome
Possible involvement in photoreceptor development

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 15q23
	in mouse:

Gene Data

mRNA: 2.2

Exons:

Primers:

Protein Data

Amino acids:

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

References:

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 [see comments]. 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