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Photoreceptor Cell Specific Nuclear Receptor (PNR)

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NR2E3; PNR; ESCS; RNR; Rd7; Nuclear Receptor Subfamily 2,Group E,Member 3; Protein tailless homolog; Nuclear receptor TLX

Photoreceptor Cell Specific Nuclear Receptor (PNR)
CCC D956
HGNC 7974
MGI 1346317
PubMed 11725181
UniProt Q9Y5X4
Wiki PNR
PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified..

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD956Hu01 Recombinant Photoreceptor Cell Specific Nuclear Receptor (PNR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD956Hu01 Polyclonal Antibody to Photoreceptor Cell Specific Nuclear Receptor (PNR) WB; ICC; IHC-P; IHC-F; ELISA.
Assay Kits n/a CLIA Kit for Photoreceptor Cell Specific Nuclear Receptor (PNR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Photoreceptor Cell Specific Nuclear Receptor (PNR) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Photoreceptor Cell Specific Nuclear Receptor (PNR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Photoreceptor Cell Specific Nuclear Receptor (PNR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Photoreceptor Cell Specific Nuclear Receptor (PNR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Photoreceptor Cell Specific Nuclear Receptor (PNR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Photoreceptor Cell Specific Nuclear Receptor (PNR) ELISA Kit Customized Service Offer
  1. "Identification of a photoreceptor cell-specific nuclear receptor."Proc. Natl. Acad. Sci. U.S.A. 96:4814-4819(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Retina-specific nuclear receptor: a potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Muller glial cells."Proc. Natl. Acad. Sci. U.S.A. 96:15149-15154(1999) [PubMed] [Europe PMC] [Abstract]
  3. "The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes."Hum. Mol. Genet. 14:747-764(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation."PLoS ONE 8:E74359-E74359(2013) [PubMed] [Europe PMC] [Abstract]
  5. "The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition."Hum. Genet. 107:276-284(2000) [PubMed] [Europe PMC] [Abstract]
  6. "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate."Nat. Genet. 24:127-131(2000) [PubMed] [Europe PMC] [Abstract]
  7. "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration."Arch. Ophthalmol. 121:1316-1323(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome."Hum. Mutat. 24:439-439(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity."Ophthalmology 112:2115-2115(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa."Am. J. Hum. Genet. 81:147-157(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies."Clin. Genet. 73:360-366(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family."Hum. Mutat. 30:342-351(2009) [PubMed] [Europe PMC] [Abstract]