Two isoforms were produced by alternative splicing with predicted MW of 290 and 180 kDa according to UniProt. 22490-1-AP can recognize both.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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