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Recombinant Human Norrie Disease (pseudoglioma)

Cat. No.: NDP-489H
Product Overview: Recombinant Human NDPis expressed in E. coli, which has a molecule weight of 12.6 kDa. Lys25­ Ser133, with an N­terminal Met.
Description: Norrin (also calledNorrie Disease Protein or NDP) is a secreted regulatory protein that remains tightlyassociated with the extracellular matrix. At least 70 mutations of Norrin havebeen identified in Norrie disease (X­linked retinal dysplasia) or in a minorityof X­linked familial exudative vitreoretinopathy (FEVR). Both are disorders ofretinal vascularization that cause blindness. Norrin consists of disulfide­linkedhomodimers that oligomerize further via disulfide bridges to form higher orderoligomers containing up to ten units of 12 kDa each. The cysteine­rich C­terminaldomain of Norrin is homologous to von Willebrand factor, several extracellularmucin proteins, and members of the TGF­β family. Norrin and Frizzled­4 are expressedat relatively low levels in tissues displaying vascular phenotypes and geneticdisruption of either gene in mice gives phenotypes with marked similarities. HumanNorrin shares 100%, 96%, 95%, 94% and 90% aminoacid identity with rhesus macaque,canine, bovine, mouse, and chick Norrin, respectively.
Source: E. coli­derived
Form: Lyophilized from a 0.2μm filtered solution in HCl.
N-terminal Sequence: Met
Molecular Weight: 12.6 kDa
Activity: Measured by its bindingability in a functional ELISA. When rhNorrin is coated at 0.5 μg/mL (100 μL/well),the concentration of rmFrizzled­4/Fc that produces 50% of the optimal bindingresponse is found to be approximately 75 ­ 375 ng/mL.
Purity: >97%, by SDS­PAGEunder reducing conditions and visualized by silver stain.
Endotoxin Level: <1.0 EU per 1 μg ofthe protein by the LAL method.
Reconstitution: Reconstitute at 250 μg/mLin sterile 4 mM HCl.
Storage: Use a manual defrostfreezer and avoid repeated freeze-thaw cycles. 12 months from date of receipt,-20 to -70 °C as supplied. 1 month, 2 to 8 °C under sterile conditions after reconstitution.3 months, -20 to -70 °C under sterile conditions after reconstitution.
OfficialSymbol: NDP
Gene Name: NDP Norrie disease (pseudoglioma)[ Homo sapiens ]
Synonyms: NDP; Norrie disease (pseudoglioma);ND; EVR2; FEVR; norrin; norrie disease protein; X-linked exudative vitreoretinopathy2 protein; exudative vitreoretinopathy 2 (X-linked); OTTHUMP00000023168
Gene ID: 4693
mRNA Refseq: NM_000266
Protein Refseq: NP_000257
MIM: 300658
UniProt ID: Q00604
Chromosome Location: Xp11.4
Function: cell surface binding;cytokine activity; frizzled binding; growth factor activity; protein homodimerizationactivity

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