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CEP290

Anti-CEP290 Products
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a, κ
- Application: WB, IP, IF, IHC, ELISA
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For Research Use Only. Not For Clinical Use.
Background
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.