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The official name of this gene is “retinoschisin 1.”
RS1 is the gene's official symbol. The RS1 gene is also known by other names, listed below.
The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and in specialized cells within the retina that detect light and color (photoreceptor cells). This protein's exact role in the maintenance of the retina is unknown. Retinoschisin probably is involved in the organization of cells in the retina by connecting cells together (cell adhesion).
More than 160 mutations in the RS1 gene have been found to cause X-linked juvenile retinoschisis. Most of these mutations change one protein building block (amino acid) in the retinoschisin protein, although many different types of mutations have been identified. Research suggests that the various mutations in the RS1 gene affect the function of the retinoschisin protein in three different ways: by altering the 3-dimensional structure of the protein, by impairing its ability to connect cells together (cell adhesion), and by causing the protein to be misplaced within the retinal cells. The type of protein dysfunction depends on the location of the mutation within the RS1 gene. Changes in the retinoschisin protein disrupt its role in the maintenance of the retina. As a result, splitting or tearing of the retina can occur, causing reduced sharpness and other vision problems associated with X-linked juvenile retinoschisis.
Cytogenetic Location: Xp22.13
Molecular Location on the X chromosome: base pairs 18,639,687 to 18,672,102
The RS1 gene is located on the short (p) arm of the X chromosome at position 22.13.
More precisely, the RS1 gene is located from base pair 18,639,687 to base pair 18,672,102 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about RS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cell ; cell adhesion ; gene ; juvenile ; mutation ; photoreceptor ; protein ; retina ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.