Tissue expression
Cell line expression
Protein structure
CEP290
Centrosomal protein 2903H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Top validated antibodies |
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| Proteintech Group | 14 references | Polyclonal |
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| Invitrogen Antibodies | Polyclonal |
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| LSBio | Polyclonal |
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| Novus Biologicals | 9 references | Polyclonal |
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| NovoPro Bioscience Inc. | Polyclonal |
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