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.
Other Names
3H11Ag; BBS14; cancer/testis antigen 87; CE290_HUMAN; centrosomal protein 290kDa; centrosomal protein of 290 kDa; CT87; CTCL tumor antigen se2-2; FLJ13615; FLJ21979; JBTS5; JBTS6; KIAA0373; LCA10; MKS4; monoclonal antibody 3H11 antigen; nephrocytsin-6; NPHP6; POC3; POC3 centriolar protein homolog; prostate cancer antigen T21; rd16; SLSN6; tumor antigen se2-2
Related Genetics Topics
- Bardet-Biedl syndrome — MedlinePlus Genetics
- Leber congenital amaurosis — MedlinePlus Genetics
- Joubert syndrome — MedlinePlus Genetics
- Meckel syndrome — MedlinePlus Genetics
- Senior-Løken syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 80184
- OMIM: 610142
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
