|Application ||WB, IHC-P, E|
|Other Accession||Q6AZT7, P0CI65, NP_694972.3|
|Calculated MW||150864 Da|
|Antigen Region||144-173 aa|
|Other Names||Nephrocystin-3, NPHP3, KIAA2000|
|Target/Specificity||This NPHP3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 144-173 amino acids from the N-terminal region of human NPHP3.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||NPHP3 Antibody (N-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described 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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