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Aliquoting is unnecessary for -20°C storage.
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.
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Protein Aliases: Bardet-Biedl syndrome 14 protein; Bardet-Biedl syndrome 14 protein homolog; Cancer/testis antigen 87; centrosomal protein 290kDa; Centrosomal protein of 290 kDa; Cep290; CT87; CTCL tumor antigen se2-2; Meckel syndrome, type 4; monoclonal antibody 3H11 antigen; Nephrocystin-6; nephrocytsin-6; POC3 centriolar protein homolog; prostate cancer antigen T21; Tumor antigen se2-2
Gene Aliases: 3H11Ag; b2b1454Clo; b2b1752Clo; BBS14; BC004690; CEP290; CT87; JBTS5; KIAA0373; LCA10; MKS4; NPHP6; POC3; rd16; RGD1311640; SLSN6
UniProt ID: (Human) O15078, (Mouse) Q6A078
Entrez Gene ID: (Human) 80184, (Mouse) 216274, (Rat) 314787
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