Entrez 10002 | Ensembl ENSG00000278570 | |
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Aliases NR2E3, Nr2e3, A930035N01Rik, PNR, RNR, rd7, ESCS, RP37, nuclear receptor subfamily 2 group E member 3 External IDs MGI: 1346317 HomoloGene: 84397 GeneCards: NR2E3 | ||
The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a protein that in humans is encoded by the NR2E3 gene. PNR is a member of the nuclear receptor super family of intracellular transcription factors.
Contents
Function
PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several 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 retinitis pigmentosa, and Goldmann-Favre syndrome.
References
Photoreceptor cell-specific nuclear receptor Wikipedia(Text) CC BY-SA