Recombinant Human NR2E3/RNR protein (ab160757)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: ELISA, WB
Description
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Product name
Recombinant Human NR2E3/RNR protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESN TESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEP EDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNL PVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGG AQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKD PEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIEL LFFRKTIGNTPMEKLLCDMFKN -
Amino acids
1 to 322 -
Tags
GST tag N-Terminus
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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.
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Applications
ELISA
Western blot
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Form
Liquid -
Additional notes
This product was previously labelled as NR2E3.
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Concentration information loading...
Preparation and Storage
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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
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Alternative names
- ESCS
- MGC49976
- NR2 E3
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
modificationsDi- 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
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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SDS download
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Datasheet download
References (0)
ab160757 has not yet been referenced specifically in any publications.