Anti -Norrin (Norrie Disease Protein)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: X; NC_000023.10 (43808022..43832921, complement). Location: Xp11.4

Monoclonal

IgG1

7H103

Mouse

Recognizes human Norrin. Species Crossreactivity: mouse

Affinity Purified
Purified by Protein G affinity chromatography.

Supplied as a lyophilized powder from PBS, 5% trehalose. Reconstitute with 200ul sterile PBS.

Lyophilized powder may be stored at -20 degree C. Stable for 12 months at -20 degree C. Reconstitute with sterile PBS. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Reconstituted product is stable for 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.?

Small volumes of anti-NDP antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Norrin is a secreted protein that has a C-terminal cysteine-knot motif. Although Norrin is unrelated to Wnt family proteins, it is a Frizzled-4-specific ligand that activates the canonical Wnt pathway through Frizzled-4 and LRP5 (LDL receptor-related protein). Mutations in Norrin are associated with Norrie disease and X-linked familial exudative vitroretinopathy. The amino acid sequence of human Norrin is 100% and 94% identical to rhesus macaque and mouse Norrin, respectively.

Antibodies; Abs to Disease Markers

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in ELISA and Western Blot.
Dilution: Western Blot: 1ug/ml under reducing conditions only.

15,044 Da[Similar Products]

Norrie disease (pseudoglioma)

norrin; OTTHUMP00000023168; norrie disease protein; X-linked exudative vitreoretinopathy 2 protein

Norrin

EVR2??[Similar Products]

NDP_HUMAN

This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq]

NDP: Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction. Defects in NDP are the cause of Norrie disease (ND); also known as atrophia bulborum hereditaria or Episkopi blindness. ND is a recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. Defects in NDP are the cause of vitreoretinopathy exudative type 2 (EVR2). EVR2 is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: Xp11.4

Cellular Component: extracellular matrix; extracellular space; cell surface

Molecular Function: protein binding; protein homodimerization activity; growth factor activity; frizzled binding; cytokine activity

Biological Process: nervous system development; cell proliferation; Wnt receptor signaling pathway; sensory perception of sound; cell-cell signaling; visual perception; positive regulation of transcription, DNA-dependent; positive regulation of transcription factor activity; Wnt receptor signaling pathway through beta-catenin; signal transduction; placenta development; vacuole organization and biogenesis

Disease: Exudative Vitreoretinopathy 2, X-linked; Norrie Disease

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.