|Other Names||Nephrocystin-3, NPHP3, KIAA2000|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.|
|Cellular Location||Cell projection, cilium Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N- terminus|
|Tissue Location||Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas Expressed at very low level in brain and lung|
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This gene encodes a protein containing a coiled-coil (CC)domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratricopeptide repeat (TPR) domain. The encoded protein interacts withnephrocystin and may function in renal tubular development andfunction. Mutations in this gene are associated withnephronophthisis type 3. Multiple splice variants have beendescribed but their full-length nature has not been determined.
Simpson, M.A., et al. Am. J. Kidney Dis. 53(5):790-795(2009)Tory, K., et al. Kidney Int. 75(8):839-847(2009)Bergmann, C., et al. Am. J. Hum. Genet. 82(4):959-970(2008)Hoefele, J., et al. J. Am. Soc. Nephrol. 18(10):2789-2795(2007)Leipe, D.D., et al. J. Mol. Biol. 343(1):1-28(2004)
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