Product Overview
Target Information
Alternative Names
CEP290; 3H11Ag; Cancer/testis antigen 87; Centrosomal protein of 290 kDa; CTCL tumor antigen se2-2; CT87; Centrosomal protein 290kDa; JBTS5; JBTS6; Meckel syndrome, type 4; Nephrocytsin-6; NPHP6; POC3; KIAA0373; Rd16; MKS4; SLSN6; BBS14; Nephrocystin-6; Prostate cancer antigen T21; Tumor antigen se2-2
Function
Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles to capped ciliary vesicles. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Required for efficient recruitment of RAB8A to primary cilium. In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5. Activates ATF4-mediated transcription.
Tissue Specificity
Ubiquitous. Expressed strongly in placenta and weakly in brain.
Shipping & Handling
Shipping
Shipped on dry ice.
Storage
Upon receipt, store at -20 °C or -80 °C. Avoid repeated freeze.
