Rabbit anti-Human Norrin Polyclonal Antibody | anti-NDP antibody

Norrin Antibody

Cat. Num. AAA150479

• Gene Names: NDP; ND; EVR2; FEVR
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunocytochemistry
• Purity: Norrin Antibody is affinity chromatography purified via peptide column.
• Synonyms: Norrin; Polyclonal Antibody; Norrin Antibody; ND; EVR2; FEVR; Norrie disease protein; Norrie disease (pseudoglioma); anti-NDP antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Norrin Antibody is affinity chromatography purified via peptide column.
• Form/Format: Liquid
• Concentration: 1 mg/mL (varies by lot)
• Sequence Length: 133

• Applicable Applications for anti-NDP antibody: ELISA (EIA), Western Blot (WB), Immunocytochemistry (ICC)
• Application Notes: Norrin antibody can be used for detection of Norrin by Western blot at 1 - 2 mug/mL. Antibody can also be used for immunocytochemistry starting at 5 mug/mL.
• Conjugate: Unconjugated
• Immunogen: Norrin antibody was raised against an 18 amino acid synthetic peptide from near the amino terminus of human Norrin.
• Buffer: Norrin Antibody is supplied in PBS containing 0.02% sodium azide.
• Preparation and Storage: Norrin antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Western Blot (WB)

(Western blot analysis of Norrin in Jurkat cell lysate with Norrin antibody at (A) 1 and (B) 2 μg/mL.)

Immunocytochemistry (IHC)

(Immunocytochemistry of Norrin in Jurkat cells with Norrin antibody at 5 μg/mL.)

Related Product Information for anti-NDP antibody

Norrin Antibody: Norrie disease is an X-linked genetic disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness. The gene responsible for this disease was initially identified through positional cloning. Norrin, the gene product, encodes a small secreted, cysteine-rich protein that is thought to act as a ligand for the Wnt-receptor/beta-catenin signal pathway despite having sequence homology with the Wnt family of proteins. Mice lacking this gene have abnormal blood vessel growth in the vitreous and a disorganized retina; transgenic ectopic expression of Norrin restores normal retinal vasculature. Recent evidence shows that Norrin can attenuate tPA and uPA-mediated death of transformed rat retinal ganglion cells (RGC-5) by activating the Wnt/beta-catenin pathway and regulating the phosphorylation of LRP-1, a cell surface receptor for tPA and uPA, suggesting the Norrin may function in vivo by regulating kinases which may alter the phosphorylation of LRP-1.

NCBI and Uniprot Product Information

• NCBI GI #: 4557789
• NCBI GeneID: 4693
• NCBI Accession #: NP_000257
• NCBI GenBank Nucleotide #: NM_000266.3
• UniProt Accession #: Q00604; Q5JYH5; B2R8K6
• Molecular Weight: 15,044 Da
• NCBI Official Full Name: norrin
• NCBI Official Synonym Full Names: Norrie disease (pseudoglioma)
• NCBI Official Symbol: NDP
• NCBI Official Synonym Symbols: ND; EVR2; FEVR
• NCBI Protein Information: norrin; norrie disease protein; X-linked exudative vitreoretinopathy 2 protein
• UniProt Protein Name: Norrin
• Protein Family: Norrin
• UniProt Gene Name: NDP
• UniProt Synonym Gene Names: EVR2
• UniProt Entry Name: NDP_HUMAN

NCBI Description

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 Description

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; sensory perception of sound; Wnt receptor signaling pathway; visual perception; cell-cell signaling; 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