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Overview
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CEP290 is a protein encoded by the CEP290 gene which is approximately 290, 3 kDa. CEP290 is localised to the cytoplasm. It is involved in regulation of PLK1 activity at G2/M transition, innate immune system and mitotic cell cycle. It is 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. It is involved in the early and late steps of cilia formation. CEP290 is ubiquitously expressed with stronger expression in the placenta. Mutations in the CEP290 gene may result in Joubert syndrome. STJ92224 was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. This polyclonal antibody detects endogenous levels of CEP290 protein.
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Overview