Nuclear receptor subfamily 2 group E member 3 (NR2E3)

Nuclear hormone receptor subfamily 2 group E member 3 (NR2E3), also known as photoreceptor cell-specific nuclear receptor (PNR), is a photoreceptor-specific orphan nuclear hormone receptor that plays a critical role in the development and maintenance of retinal photoreceptors, particularly rods. It acts as both an activator and repressor in gene regulation. Mutations in NR2E3 are associated with several inherited retinal diseases, including Enhanced S-cone syndrome (ESCS), Goldmann-Favre syndrome, Retinitis pigmentosa, and Clumped pigmentary retinal degeneration (CPRD).

Other names

PNRPhotoreceptor cell-specific nuclear receptor

NR2E3 acts as both an activator and repressor in gene regulation, binding to promoter regions of rod and cone genes. It self-dimerizes into a default repressor state. Synthetic modulators can act as agonists, reverse agonists, or allosteric modulators.