Overview

  • Product name
    Recombinant Human NR2E3 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
      proprietary 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.
  • 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.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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