诺里病NDP蛋白/早产儿视网膜病蛋白抗体
规格：1mg/1ml
英文名： NORRIN
别名： 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 protei
分子量： 12kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human NORRIN
交叉反应：Human, Mouse, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：分泌型蛋白
诺里病NDP蛋白/早产儿视网膜病蛋白抗体产品介绍：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 ***** brain. DISEASE: Defects in NDP are the cause of Norrie disease (ND) [MIM:310600]; also known as atrophia bulborum hereditaria or Episkopi blindness诺里病NDP蛋白/早产儿视网膜病蛋白抗体. 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 r诺里病NDP蛋白/早产儿视网膜病蛋白抗体etinal 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. Gene ID: 4693 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 诺里病NDP蛋白/早产儿视网膜病蛋白抗体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.
产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 发育生物学 神经生物学 干细胞
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid