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Reviewed August 2010
What is the official name of the CEP290 gene?
The official name of this gene is “centrosomal protein 290kDa.”
CEP290 is the gene's official symbol. The CEP290 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CEP290 gene?
The CEP290 gene provides instructions for making a protein that is present in many types of cells. 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).
How are changes in the CEP290 gene related to health conditions?
Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the CEP290 gene:
Where is the CEP290 gene located?
Cytogenetic Location: 12q21.32
Molecular Location on chromosome 12: base pairs 88,049,012 to 88,142,215
The CEP290 gene is located on the long (q) arm of chromosome 12 at position 21.32.
More precisely, the CEP290 gene is located from base pair 88,049,012 to base pair 88,142,215 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CEP290?
You and your healthcare professional may find the following resources about CEP290 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CEP290 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CEP290?
antibody ; cancer ; cell ; cell division ; central nervous system ; congenital ; gene ; monoclonal ; monoclonal antibody ; mutation ; nervous system ; perception ; prostate ; protein ; renal ; retina ; syndrome ; testis ; tissue ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.