ⓘ CEP290

                                     

ⓘ CEP290

The gene CEP290 is a centrosomal protein that plays an important role in centrosome and cilia development. This gene is vital in the formation of the primary cilium, a small antenna-like projections of the cell membrane that plays an important role in the photoreceptors at the back of the retina which detect light and color and in the kidney, brain, and many other organs of the body. Knocking down levels of the CEP290 gene transcript resulted in dramatic suppression of ciliogenesis in retinal pigment epithelial cells in culture, proving just how important CEP290 is to cilia formation.

At the molecular level, CEP290 has been shown to play important regulatory and structural role in the formation of the primary cilium. Recent research has identified how the involvement of CEP290 microtubule and membrane binding protein that may serve as structural links between the microtubule core of cilia and the overlying ciliary membrane. Violation CEP290s microtubule binding domain in the mouse model rd16 CEP290 disease been shown to result in rapid and dramatic retinal degeneration, demonstrating the importance of CEP290 microtubule binding in disease. The role of CEP290 in the promotion ciliogensis inhibited automatically regulating bodies found at one of the ends of the CEP290 protein and CEP290s through interaction with the brake CP110 protein.

The discovery of the gene CEP290 has led researchers to find another gene critical to the function of the retina, LCA5. Clinical trials involving gene replacement of these two genes have started in Philadelphia, where the researchers hope that with congenital amaurosis Leber in one day can be cured.