CEP290 : centrosomal protein 290

Description

The CEP290 (centrosomal protein 290) is a protein-coding gene located on chromosome 12.

The CEP290 gene provides instructions for making a protein that is present in many types of cells, including in the eye's light receptor cells (photoreceptors). Although this protein's function is not well understood, studies suggest that it plays an important role in cell structures called centrosomes and cilia. Centrosomes are involved in cell division and the assembly of microtubules, which are proteins that transport materials in cells and help the cell maintain its shape. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and many different chemical signaling pathways. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). The CEP290 protein is likely necessary for vision by playing a role in transporting proteins within photoreceptors.

The CEP290 gene plays a crucial role in the formation of cilia, tiny hair-like structures that extend from cells and are involved in various cellular functions like movement and sensing. It participates in both early and late stages of cilia formation. Its interaction with CCP110 is essential for preventing the premature formation of primary cilia. CEP290 may also be involved in the early stages of cilia development, particularly in the disappearance of centriolar satellites and the transformation of primary ciliary vesicles (PCVs) into capped ciliary vesicles (CCVs). Moreover, CEP290 is necessary for recruiting RAB8A to the centrosome, a key structure for organizing microtubules, and for directing centriole satellite proteins, such as PCM1, to the centrosome. CEP290 plays a role in the proper positioning of ciliary and phototransduction proteins within the light-sensitive cells of the retina, potentially contributing to ciliary transport processes. In addition, CEP290 is required for the efficient recruitment of RAB8A to the primary cilium. CEP290 is part of a complex called the tectonic-like complex, which is situated within the ciliary transition zone, a region crucial for the formation of specialized cilia. This complex is essential for tissue-specific ciliogenesis and may regulate the composition of the ciliary membrane. CEP290 also regulates the integrity of the BBSome complex, which is vital for transporting proteins within cilia. Specifically, CEP290 ensures the presence of BBS2, BBS5, and BBS8/TTC8 in the BBSome complex and facilitates the transport of specific BBSome cargo to cilia. CEP290 might control the entry of the BBSome complex into cilia, possibly involving the interaction with IQCB1/NPHP5. Additionally, CEP290 activates the transcription of genes through the ATF4 pathway.

CEP290 is also known as 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing