Reviewed March 2015
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 making 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. Retinoschisin attaches (binds) to the surface of specialized cells within the retina that detect light and color (photoreceptor cells). The protein also binds to bipolar cells, which relay light signals from photoreceptor cells to other retinal cells. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and its specialized cells. Retinoschisin is likely involved in the organization of cells in the retina by attaching 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 220 mutations in the RS1 gene have been found to cause X-linked juvenile retinoschisis. This disorder causes tiny splits (schisis) or tears to form in the retina, which results in progressive vision loss in males. Most of the RS1 gene 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 can alter the 3-dimensional structure of the protein, impair the protein's ability to attach cells together (cell adhesion), cause misplacement of the protein within retinal cells, or prevent protein production. Changes in the retinoschisin protein function or production disrupt its role in the maintenance and organization of the retina. As a result, splitting or tearing of the retina can occur, causing the 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 18,639,688 to 18,672,103
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6247))
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 18,639,688 to base pair 18,672,103 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: RS1 Gene Mutation Database (http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=RS1)
- 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
- 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
- Kim DY, Mukai S. X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):392-6. doi: 10.3109/08820538.2013.825299. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24138048?dopt=Abstract)
- Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22245536?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)
- 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)
- Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q. Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med. 2012 Apr;29(4):644-8. doi: 10.3892/ijmm.2012.882. Epub 2012 Jan 10. (http://www.ncbi.nlm.nih.gov/pubmed/22245991?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.