IQCB1 Products

Description

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.

Bioinformatics

Entrez	9657 Human
Uniprot	NP_001018865 Human Q15051 Human
Product By Gene ID	9657
Alternate Names	IQ calmodulin-binding motif containing 1 IQ motif containing B1 KIAA0036nephrocystin 5 Nephrocystin-5 NPHP5IQ calmodulin-binding motif-containing protein 1 p53 and DNA damage-regulated IQ motif protein PIQ SLSN5