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Retinitis pigmentosa 37; RP37

Disease ID:823
Name:Retinitis pigmentosa 37; RP37
Associated with:1 target
Retinitis pigmentosa
Database Links
Disease Ontology: DOID:10584
OMIM: 611131
Orphanet: ORPHA791


Comments:  Gerber and collaborators demonstrated that retinitis pigmentosa in the Crypto-Jews (Marranos) in Portugal is due to an arg311-to-gln (R311Q) mutation in exon 6 of the NR2E3 gene. A G-to-A transition at nucleotide 1020 changed codon 311 from CGG to CAG.
References:  1


No ligand related data available for Retinitis pigmentosa 37; RP37


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1. Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J. (2000) The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Hum. Genet., 107 (3): 276-84. [PMID:11071390]