Retinoschisin (RS1)

Retinoschisin is a soluble, cell-surface protein crucial for the structural and functional maintenance of the retina. Encoded by the RS1 gene, it is primarily expressed by retinal bipolar cells and photoreceptors. Retinoschisin forms paired octamer rings and mediates cell-to-cell adhesion. Mutations in RS1 cause X-linked juvenile retinoschisis (XLRS), a progressive degenerative disease characterized by the formation of cystic cavities within the retina, separation of retinal layers, and ultimately, vision loss. It maintains retinal architecture by binding to plasma membranes of photoreceptor and bipolar cells, facilitating tight cellular organization in the retina.

Other names

X-linked juvenile retinoschisis protein