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Article

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

Human mutation - 1 Jun 2015

von Alpen Désirée, Tran Hoai Viet, Guex Nicolas, Venturini Giulia, Munier Francis L, Schorderet Daniel F, Haider Neena B, Escher Pascal

Abstract excerpt

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (LBD) of NR2E3 cause enhanced short wavelength sensitive- (S-) cone syndrome (ESCS), a retinal degeneration characterized by an excess of S-cones and...

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Source

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Identifiers

PMID: 25703721
DOI: 10.1002/humu.22775
PMCID: PMC5014385

Genes

CRX
NRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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