Species Human Entrez 6247 | Human Mouse Ensembl ENSG00000102104 | |
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Aliases RS1, RS, XLretinoschisin 1 External IDs MGI: 1336189 HomoloGene: 279 GeneCards: RS1 | ||
Retinoschisin also known as X-linked juvenile retinoschisis protein is a protein that in humans is encoded by the RS1 gene.
Contents
Function and Cell Biology
Retinoschisin is an extracellular protein that plays a crucial role in the cellular organization of the retina. This protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Monomeric retinoschisin contains 224 amino acids with a leader sequence that is cleaved off upon preparation in the cell for secretion.
Clinical significance
Mutations in this gene are responsible for X-linked retinoschisis an early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.
References
Retinoschisin Wikipedia(Text) CC BY-SA