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Reviewed August 2010
What is the official name of the RPE65 gene?
The official name of this gene is “retinal pigment epithelium-specific protein 65kDa.”
RPE65 is the gene's official symbol. The RPE65 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 RPE65 gene?
The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye.
The RPE65 protein is involved in a multi-step process called the visual cycle, which converts light entering the eye into electrical signals that are transmitted to the brain. When light hits photosensitive pigments in the retina, it changes a molecule called 11-cis retinal (a form of vitamin A) to another molecule called all-trans retinal. This conversion triggers a series of chemical reactions that create electrical signals. The RPE65 protein then helps convert all-trans retinal back to 11-cis retinal so the visual cycle can begin again.
How are changes in the RPE65 gene related to health conditions?
Genetics Home Reference provides information about retinitis pigmentosa, which is also associated with changes in the RPE65 gene.
Where is the RPE65 gene located?
Cytogenetic Location: 1p31
Molecular Location on chromosome 1: base pairs 68,428,821 to 68,453,353
The RPE65 gene is located on the short (p) arm of chromosome 1 at position 31.
More precisely, the RPE65 gene is located from base pair 68,428,821 to base pair 68,453,353 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RPE65?
You and your healthcare professional may find the following resources about RPE65 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 RPE65 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 RPE65?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.