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Article

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

PloS one - 12 Oct 2009

Roduit Raphael, Escher Pascal, Schorderet Daniel F

Abstract excerpt

BACKGROUND: NR2E3 (PNR) is an orphan nuclear receptor essential for proper photoreceptor determination and differentiation. In humans, mutations in NR2E3 have been associated with the recessively inherited enhanced short wavelength sensitive (S-) cone syndrome (ESCS) and, more recently, with autosomal dominant retinitis pigmentosa (adRP). NR2E3 acts as a suppressor of the cone generation program in late mitotic...

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Share to Dimerization
Share to Green Fluorescent Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Orphan Nuclear Receptors

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Source

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Identifiers

PMID: 19823680
DOI: 10.1371/journal.pone.0007379
PMCID: PMC2757917

Genes

CRX
NRL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.PMID 19823680Read ↗

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