Photoreceptor cell-specific nuclear receptor

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a is_associated_with::protein that in humans is encoded by the NR2E3 is_associated_with::gene. PNR is a member of the is_associated_with::nuclear receptor super family of is_associated_with::intracellular is_associated_with::transcription factors.

Function
PNR is exclusively expressed in the is_associated_with::retina. The main target genes of PNR are is_associated_with::rhodopsin and several is_associated_with::opsins which are essential for sight.

Clinical significance
Mutations in the NR2E3 gene have been linked to several inherited retinal diseases, including enhanced S-cone syndrome (ESCS), a form of is_associated_with::retinitis pigmentosa, and Goldmann-Favre syndrome.