Mouse Norrie disease (pseudoglioma) ELISA Kit | NDP elisa kit
Mouse Norrin, NDP ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a secreted protein that acts a ligand for multiple different receptors and participates in both Wnt and Wnt-independant signalling. Its activity is important in vascular development of the eye and inner ear. Mutation of the related gene in humans causes Norrie syndrome. [provided by RefSeq, May 2015]
Uniprot Description
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
Cellular Component: extracellular matrix; extracellular space; cell surface; extracellular region
Molecular Function: protein homodimerization activity; frizzled binding; cytokine activity
Biological Process: Wnt receptor signaling pathway; positive regulation of transcription, DNA-dependent; positive regulation of transcription factor activity; Wnt receptor signaling pathway through beta-catenin; placenta development
Research Articles on NDP
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Product Notes
The Mouse NDP ndp (Catalog #AAA9341939) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9341939 ELISA Kit recognizes Mouse NDP. It is sometimes possible for the material contained within the vial of "Norrie disease (pseudoglioma), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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