About Site Map Contact Us
|
||
A service of the U.S. National Library of Medicine® | ||
PRPH2
|
PRPH2On this page:
Reviewed October 2008
What is the official name of the PRPH2 gene?The official name of this gene is “peripherin 2 (retinal degeneration, slow).” PRPH2 is the gene's official symbol. The PRPH2 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 PRPH2 gene?The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and color. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments. How are changes in the PRPH2 gene related to health conditions?
Genetics Home Reference provides information about retinitis pigmentosa, which is also associated with changes in the PRPH2 gene. Where is the PRPH2 gene located?Cytogenetic Location: 6p21.2-p12.3 Molecular Location on chromosome 6: base pairs 42,664,332 to 42,690,357 The PRPH2 gene is located on the short (p) arm of chromosome 6 between positions 21.2 and 12.3. More precisely, the PRPH2 gene is located from base pair 42,664,332 to base pair 42,690,357 on chromosome 6. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find additional information about PRPH2?You and your healthcare professional may find the following resources about PRPH2 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 PRPH2 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 PRPH2?acids ; amino acid ; autosomal ; autosomal dominant ; cell ; epithelium ; gene ; homologs ; mutation ; peripheral ; photoreceptor ; pigment ; protein ; retina ; tissue 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. |