Recombinant Human Norrin (NDP) Protein (His-GST&Myc)

Name: Recombinant Human Norrin (NDP) Protein (His-GST&Myc)
Brand: Beta LifeScience
SKU: BLC-01187P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Norrin (NDP) Protein (His-GST&Myc) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	Q00604
Target Symbol	NDP
Synonyms	(Norrie disease protein)(X-linked exudative vitreoretinopathy 2 protein)
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-10His-GST&C-Myc
Target Protein Sequence	KTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS
Expression Range	25-133aa
Protein Length	Full Length of Mature Protein
Mol. Weight	47.6 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target 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.
Database References	HGNC: 7678 OMIM: 300658 KEGG: hsa:4693 STRING: 9606.ENSP00000367301 UniGene: PMID: 28675177 A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease. PMID: 28922694 The genetic analysis of the NDP gene enabled to identify the novel frameshift mutation c.222_c223insCG in p1 leading to the premature stop codon and production of aberrant norrin protein. In P2, clinical presentation included high myopia with astigmatism, unilateral fibrous bands and retinal detachment. Genetic testing revealed known point mutation c.362G>A leading to amino-acid alteration and improper protein. Conclus PMID: 30088388 The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family mem PMID: 28602015 The screening of candidate genes namely NDP, FZD4 and TSPAN12 led to the identification of six major coding region variants in 36 ROP probands. PMID: 28982955 c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease. PMID: 29133643 Probands with LRP5 or NDP mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR. PMID: 29181528 The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with familial exudative vitreoretinopathy in the studied family PMID: 27720678 Among the detected mutations, LRP5 accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (3/31, 9.7%), FZD4 (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses. PMID: 28494495 we reported a novel missense NDP mutation of a familial case of Norrie Disease in a Chinese family. PMID: 26547627 hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu) was identified in two brothers with isolated bilateral microphthalmia and sclerocornea. PMID: 26130484 First study to demonstrate the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR) that further expands its mutation spectrum. PMID: 27217716 These structural, biophysical and cellular data, map Fz4 and putative Lrp5/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 cysteine-rich domain. PMID: 26158506 Genetic evaluation of a case of bilateral leukocoria and asymmetric microphthalmia revealed a previously undescribed mutation in the Norrie disease protein gene. PMID: 26459204 Norrin may play a role in the regulation of angiogenesis. PMID: 25005225 a novel c.277T>C missense mutation causing the substitution of a hydrophobic cysteine to a hydrophilic arginine [p.(Cys93Arg)]in patients with Norrie disease. PMID: 24801666 Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. PMID: 25023092 Norrin induces the formation of a ternary complex with Fz4 and Lrp5/6 by binding to their respective extracellular domains PMID: 24186977 Report of a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family. PMID: 22674248 Multi-functional norrin is a ligand for the LGR4 receptor. PMID: 23444378 NDP mutations are common cause of Norrie disease but might be rare cause for familial exudative vitreoretinopathy (FEVR) in Chinese. PMID: 22563645 In cases of dysplastic retinas with bilateral multiple unclear pseudotumourous lesions, cytology seems to be a useful tool to differentiate in a very short term patients with Norrie's syndrome from those with retinoblastoma or lymphoma. PMID: 21159148 Norrin has a neuroprotective role for retinal neurons independent from its role on the growth of retinal capillaries. PMID: 22183393 Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T. PMID: 21179243 A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with Norrie disease PMID: 20491809 Studies report 21 novel variants for FZD4, LRP5, and NDP. PMID: 20340138 family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe Norrie disese phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar PMID: 20227630 Norrin has pronounced neuroprotective properties on retinal neurons. The effects of Norrin involve activation of Wnt/beta-catenin signaling and subsequent induction of neurotrophic growth factors in Muller cells. PMID: 20427659 Norrin is a potent factor that induces angiogenesis in microvascular and endothelial cells following oxygen-induced retinal vessel loss. PMID: 20053900 de novo mutations in the 5' regulatory region in retinopathy of prematurity PMID: 11748312 Data show a strong association between the AA genotype of the C597A Norrie disease gene polymorphism and progression of retinopathy of prematurity. PMID: 12145535 No Norrie Disease (ND) gene mutations were detected. PMID: 12546446 DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. PMID: 15609522 Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status. PMID: 15799735 NDP polymorphisms may play a role in the pathogenesis of retinopathy of prematurity, but do not appear to be a major causative factor. PMID: 16052165 We discuss Wnts and a novel Frizzled ligand, Norrin, in physiological and pathological angiogenesis. PMID: 16714476 We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR (familial exudative vitreoretinopathy) in male patients, especially when limited family history was available. PMID: 17050281 Norrin binds to the Frizzled4 cysteine-rich domain (CRD) and does not detectably bind to 14 other mammalian Frizzled and secreted Frizzled-related protein CRDs. PMID: 17158104 Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene. PMID: 17296899 These observations indicate that mutations of the NDP gene can cause ND(Norrie disease) and 6% of FEVR(familial exudative vitreoretinopathy) cases in the Japanese population. PMID: 17325173 A novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E in Norrie disease with neurological disorder and infantile spasms. PMID: 17334993 Norrin mutants demonstrated variable effects on signal transduction, and no apparent correlation with clinical phenotypes was observed. PMID: 17955262 correlation of ophthalmic examination with carrier status for asymptomatic females from a family known to harbor a severe ND gene mutation (C95F) PMID: 18387409 We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders. PMID: 19373682

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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