Background information
Photoreceptor-specific nuclear receptor, also known as NR2E3 or PNR, belongs to a large family of nuclear hormone receptor transcription factors. The proteins belonging to this family are characterized by discrete domains functioning in DNA and ligand binding. NR2E3 has a role in regulating the signaling pathway elemental to the photoreceptor cell function and in regulating pathways involved in embryonic development. NR2E3 is an eye specific nuclear protein found in the outer nuclear layer of the adult retina (where the nuclei of cone and rod photoreceptors are located). Defects in this gene encoding for the protein, which localizes to chromosome 15q22.32, cause enhanced S cone syndrome.
