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Rabbit Anti-NORRIN/PE-Cy5 Conjugated antibody (bs-19062R-PE-Cy5)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價(jià)
產(chǎn)品編號(hào) bs-19062R-PE-Cy5
英文名稱1 Rabbit Anti-NORRIN/PE-Cy5 Conjugated antibody
中文名稱 PE-Cy5標(biāo)記的諾里病NDP蛋白/早產(chǎn)兒視網(wǎng)膜病蛋白抗體
別    名 EVR2; Exudative vitreoretinopathy 2 (X linked); FEVR; ND; NDP; NDP_HUMAN; Norrie disease (pseudoglioma); Norrie disease protein; Norrin; Norrin precursor; X linked exudative vitreoretinopathy 2 protein; X-linked exudative vitreoretinopathy 2 protein.  
規(guī)格價(jià)格 100ul/2980元 購買        大包裝/詢價(jià)
說 明 書 100ul  
研究領(lǐng)域 細(xì)胞生物  發(fā)育生物學(xué)  神經(jīng)生物學(xué)  干細(xì)胞  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) (predicted: Human, Mouse, Dog, Pig, Cow, Horse, Rabbit, Sheep, )
產(chǎn)品應(yīng)用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 12kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human NORRIN
亞    型 IgG
純化方法 affinity purified by Protein A
儲(chǔ) 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產(chǎn)品介紹 background:
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]

Function:
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.

Subcellular Location:
Secreted.

Tissue Specificity:
Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.

DISEASE:
Defects in NDP are the cause of Norrie disease (ND) [MIM:310600]; 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) [MIM:305390]. 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.

Similarity:
Contains 1 CTCK (C-terminal cystine knot-like) domain.

Database links:

Entrez Gene: 4693 Human

Entrez Gene: 418560 Chicken

Entrez Gene: 612440 Dog

Entrez Gene: 17986 Mouse

Entrez Gene: 363443 Rat

Omim: 300658 Human

SwissProt: Q2KI78 Cow

SwissProt: Q00604 Human

SwissProt: P48744 Mouse

Unigene: 522615 Human

Unigene: 5014 Mouse



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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