Overview

  • Product name

    Recombinant Human NR2E3/RNR protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      MCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESN TESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEP EDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNL PVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGG AQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKD PEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIEL LFFRKTIGNTPMEKLLCDMFKN
    • Amino acids

      1 to 322
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160757 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

     This product was previously labelled as NR2E3

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • ESCS
    • MGC49976
    • NR2 E3
    • Nr2e3
    • NR2E3_HUMAN
    • Nuclear receptor subfamily 2 group E member 3
    • Photoreceptor specific nuclear receptor
    • Photoreceptor-specific nuclear receptor
    • PNR
    • Rd 7
    • Rd7
    • Retina specific nuclear receptor
    • Retina-specific nuclear receptor
    • Retinal degeneration 7
    • RNR
    • RP37
    see all
  • Function

    Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M-and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression.
  • Tissue specificity

    Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.
  • Involvement in disease

    Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS) [MIM:268100]. ESCS is an autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
    Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37) [MIM:611131]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP37 inheritance is autosomal dominant.
  • Sequence similarities

    Belongs to the nuclear hormone receptor family. NR2 subfamily.
    Contains 1 nuclear receptor DNA-binding domain.
  • Post-translational
    modifications

    Di- and tri-sumoylated in developing retina. PIAS3-mediated sumoylation promotes repression of cone-specific gene expression and activation of rod-specific genes. Sumoylation on Lys-185 appears to be the main site.
  • Cellular localization

    Nucleus.
  • Information by UniProt

Images

  • ab160757 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160757 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab160757.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC PROCEDURES"
For licensing inquiries, please contact partnerships@abcam.com

Sign up