Reviewed August 2008
What is the official name of the RS1 gene?
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.
What is the normal function of the RS1 gene?
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).
How are changes in the RS1 gene related to health conditions?
- X-linked juvenile retinoschisis - caused by mutations in the RS1 gene
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.
Where is the RS1 gene located?
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.
Where can I find additional information about RS1?
You and your healthcare professional may find the following resources about RS1 helpful.
Educational resources - Information pages
- Leiden University Medical Center: X-linked Retinoschisis sequence variation database (http://www.dmd.nl/rs/)
- Webvision, The Organization of the Retina and Visual System: Simple Anatomy of the Retina (http://www.ncbi.nlm.nih.gov/books/NBK11533/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1222)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for RS1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6247%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28RS1%5BTIAB%5D%29%20OR%20%28retinoschisin%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/312700)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6247)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10457)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6247)
What other names do people use for the RS1 gene or gene products?
- retinoschisis (X-linked, juvenile) 1
- X-linked juvenile retinoschisis protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding RS1?
amino acid ;
cell adhesion ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. 2007 Jun 7;13:804-12. (http://www.ncbi.nlm.nih.gov/pubmed/17615541?dopt=Abstract)
- Molday RS. Focus on molecules: retinoschisin (RS1). Exp Eye Res. 2007 Feb;84(2):227-8. Epub 2006 Apr 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16600216?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6247)
- Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005 Jun;42(6):e35. (http://www.ncbi.nlm.nih.gov/pubmed/15937075?dopt=Abstract)
- OMIM: RETINOSCHISIS 1, X-LINKED, JUVENILE (http://omim.org/entry/312700)
- Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17172462?dopt=Abstract)
- Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003 Jul 25;278(30):28139-46. Epub 2003 May 13. (http://www.ncbi.nlm.nih.gov/pubmed/12746437?dopt=Abstract)
- Wu WW, Wong JP, Kast J, Molday RS. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem. 2005 Mar 18;280(11):10721-30. Epub 2005 Jan 11. (http://www.ncbi.nlm.nih.gov/pubmed/15644328?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.