Retinoschisin

Retinoschisin also known as X-linked juvenile retinoschisis protein is a is_associated_with::protein that in humans is encoded by the RS1 is_associated_with::gene.

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 is_associated_with::retinoschisis an early-onset is_associated_with::macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.