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Reviewed October 2008
What is the official name of the BEST1 gene?
The official name of this gene is “bestrophin 1.”
BEST1 is the gene's official symbol. The BEST1 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 BEST1 gene?
The BEST1 gene provides instructions for making a protein called bestrophin. Although the exact function of this protein is unknown, it appears to play a critical role in normal vision. Bestrophin is found 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 retinal pigment epithelium is involved in the growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color.
Bestrophin functions as a channel across cell membranes in the retinal pigment epithelium. Charged chlorine atoms (chloride ions) are transported through these channels in response to cellular signals. Some studies suggest that bestrophin may also help regulate the entry of charged calcium atoms (calcium ions) into cells of the retinal pigment epithelium. Other potential functions of bestrophin are under study.
How are changes in the BEST1 gene related to health conditions?
Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the BEST1 gene:
Where is the BEST1 gene located?
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 61,949,883 to 61,964,462
The BEST1 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the BEST1 gene is located from base pair 61,949,883 to base pair 61,964,462 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BEST1?
You and your healthcare professional may find the following resources about BEST1 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 BEST1 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 BEST1?
acids ; autosomal ; autosomal dominant ; autosomal recessive ; calcium ; cell ; channel ; chloride ; epithelium ; gene ; glaucoma ; inheritance ; inheritance pattern ; ions ; lipofuscin ; pigment ; protein ; recessive ; retina ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 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.