Literature associating NR2E3 and achromatopsia
Nuclear receptor subfamily 2, group E, member 3; Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression; Nuclear hormone receptors
Synonyms: NR2E3, NR2E3p, hNR2E3, F1D8Q9, PNR ...