Your search for "cep290" returned 239 TaqMan® SNP Genotyping Assays
centrosomal protein 290
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]
3H11AG, B2B1454CLO, B2B1752CLO, BBS14, BC004690, CEP290, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, RD16, RGD1311640, SLSN6
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