Immunogen sequence: IIPSLERLVN AIESKNAEGI FDASLHLKAQ VDQLTGRNEE LRQELRESRK EAINYSQQLA KANLKIDHLE KETSLLRQSE GSNVVFKGID LPDGIAPSSA SII
CEP290 activates ATF4 mediated transcription and is required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. CEP290 is ubiquitously expressed; strongly in placenta and weakly in brain. There are two named isoforms. Defects in CEP290 are a cause of Joubert syndrome type 5 (JBTS5), Senior-Loken syndrome type 6 (SLSN6), Leber congenital amaurosis type 10 (LCA10) and Meckel syndrome type 4 (MKS4). Antibodies against CEP290 are present in sera from patients with cutaneous T cell lymphomas, but not in the healthy control population.
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Protein Aliases: 3H11Ag; Bardet-Biedl syndrome 14 protein; BBS14; Cancer/testis antigen 87; centrosomal protein 290kDa; Centrosomal protein of 290 kDa; Cep290; CT87; CTCL tumor antigen se2-2; FLJ13615; JBTS5; KIAA0373; LCA10; Meckel syndrome, type 4; MKS4; monoclonal antibody 3H11 antigen; Nephrocystin-6; nephrocytsin-6; NPHP6; POC3; POC3 centriolar protein homolog; prostate cancer antigen T21; rd16; SLSN6; Tumor antigen se2-2
Gene Aliases: 3H11Ag; BBS14; CEP290; CT87; JBTS5; KIAA0373; LCA10; MKS4; NPHP6; POC3; rd16; SLSN6
UniProt ID: (Human) O15078
Entrez Gene ID: (Human) 80184