CEP290 antibody,Genetex,GTX87497

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 , BBS14 , CEP290 , CT87 , JBTS5 , LCA10 , MKS4 , NPHP6 , POC3 , SLSN6 , centrosomal protein 290 , rd16 , centrosomal protein 290kDa