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: Bardet-Biedl syndrome 14 protein; Bardet-Biedl syndrome 14 protein homolog; BBS14; Cancer/testis antigen 87; centrosomal protein 290kDa; Centrosomal protein of 290 kDa; CEP290; CT87; CTCL tumor antigen se2-2; KIAA0373; Meckel syndrome, type 4; monoclonal antibody 3H11 antigen; Nephrocystin-6; nephrocytsin-6; NPHP6; 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; SLSN6