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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Tel: +1 (206) 374-1102
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CEP290
centrosomal protein 290kDa
CEP290 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. 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.
| Gene Name: | centrosomal protein 290kDa |
| Synonyms: | CEP290, 3H11Ag, Cancer/testis antigen 87, Centrosomal protein of 290 kDa, CTCL tumor antigen se2-2, CT87, Centrosomal protein 290kDa, JBTS5, JBTS6, Meckel syndrome, type 4, Nephrocytsin-6, NPHP6, POC3, KIAA0373, Rd16, MKS4, SLSN6, BBS14, Nephrocystin-6, Prostate cancer antigen T21, Tumor antigen se2-2 |
| Target Sequences: | NM_025114 NP_079390.3 O15078 |
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