Reactive species
Human;Mouse
Antibody type
Polyclonal Antibody
Protein name
Norrin (Norrie disease protein) (X-linked exudative vitreoretinopathy 2 protein)
Immunogen
Synthesized peptide derived from human protein . at AA range: 40-120
Specificity
NDP Polyclonal Antibody detects endogenous levels of protein.
Constitute
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
