catalog number :
MBS901439
products type :
ELISA Kit
products full name :
Human Norrin, NDP ELISA Kit
products short name :
Norrie disease (pseudoglioma)
products name syn :
Human Norrin (NDP) ELISA kit; EVR2; FEVR; ND; norrin; Norrie disease (pseudoglioma)
other names :
norrin; Norrin; norrin; norrie disease protein; X-linked exudative vitreoretinopathy 2 protein; Norrie disease (pseudoglioma); Norrie disease protein; X-linked exudative vitreoretinopathy 2 protein
other gene names :
NDP; NDP; ND; EVR2; FEVR; EVR2
uniprot entry name :
NDP_HUMAN
specificity :
This assay has high sensitivity and excellent specificity for detection of human NDP. No significant cross-reactivity or interference between human NDP and analogues was observed.
storage stability :
Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.
other info1 :
Samples: Serum, plasma, tissue homogenates. Assay Type: Quantitative Sandwich. Sensitivity: Typically less than 0.078 ng/ml.
other info2 :
Intra-assay Precision: Intra-assay Precision (Precision within an assay): CV%<8%. Three samples of known concentration were tested twenty times on one plate to assess. Inter-assay Precision: Inter-assay Precision (Precision between assays): CV%<10%. Three samples of known concentration were tested in twenty assays to assess.
products description :
Principle of the Assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for NDP has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any NDP present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for NDP is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of NDP bound in the initial step. The color development is stopped and the intensity of the color is measured.
ncbi acc num :
NP_000257.1
ncbi gb acc num :
NM_000266.3
ncbi mol weight :
15,044 Da
ncbi summary :
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, Feb 2009]
uniprot summary :
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, signal peptide; Secreted. 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
size4 :
10x96-Strip-Wells