Recombinant Human Nephrocystin-1 (NPHP1), partial

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 . Does not se to be strictly required for ciliogenesis . Ses to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assbly. Required for normal retina development. In connecting photoreceptor cilia influences the movent of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis .

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity) . Does not seem to be strictly required for ciliogenesis (By similarity) . Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development. In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity) .

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y., Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I., Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K., Elsobky E., Benzing T., Schermer B., Bolz H.J.J. Clin. Invest. 121:2662-2667 (2011)

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.