Western Blot: 1/500 - 1/1000. Immunohistochemistry: 1/50 - 1/200. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
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) [MIM:610188], Senior-Loken syndrome type 6 (SLSN6) [MIM:610189], Leber congenital amaurosis type 10 (LCA10) [MIM:611755] and Meckel syndrome type 4 (MKS4) [MIM:611134]. Antibodies against CEP290 are present in sera from patients with cutaneous T cell lymphomas, but not in the healthy control population.Synonyms: IQ calmodulin-binding motif-containing protein 1, KIAA0036, NPHP5, OK/SW-cl.85