|Other Accession||NP_079390.3, 80184|
|Calculated MW||290386 Da|
|Other Names||Centrosomal protein of 290 kDa, Cep290, Bardet-Biedl syndrome 14 protein, Cancer/testis antigen 87, CT87, Nephrocystin-6, Tumor antigen se2-2, CEP290, BBS14, KIAA0373, NPHP6|
|Format||0.5 mg/ml in Tris saline, 0.02% sodium azide, pH7.3 with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||CEP290 / NPHP6 Antibody (internal region) is for research use only and not for use in diagnostic or therapeutic procedures.|
|Synonyms||BBS14, KIAA0373, NPHP6|
|Function||Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes.|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Nucleus. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells. Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.|
|Tissue Location||Ubiquitous. Expressed strongly in placenta and weakly in brain.|
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Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR. Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26. PMID: 17898177
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