Target：NDP
Gene Name：NDP EVR2
Protein Name：Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)
Human Gene Id：4693
Human Swiss Prot No：Q00604
Mouse Swiss Prot No：P48744
Immunogen：Synthesized peptide derived from human protein . at AA range: 40-120
Specificity：NDP Polyclonal Antibody detects endogenous levels of protein.
Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source：Polyclonal, Rabbit,IgG
Dilution：WB 1:500-2000 ELISA 1:5000-20000
Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration：1 mg/ml
Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD)：14kD
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：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.,disease: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 thou
Subcellular Location：Secreted .
Expression：Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
