CEP290

CEP290 is a gene that provides instructions for making a protein involved in the functioning of cilia, which are tiny hair-like structures on the surface of cells. These cilia play a crucial role in various biological processes, including vision and movement of fluids in the body. Mutations in the CEP290 gene can lead to disorders, particularly those affecting vision, such as Leber congenital amaurosis, which causes severe vision loss from birth. Understanding CEP290 helps researchers explore potential treatments for genetic conditions linked to cilia dysfunction.