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Description

Retinoschisin (UniProt: O15537, also known as X-linked juvenile retinoschisis protein) is encoded by the RS1 (also known as XLRS1) gene (Gene ID: 6247) in human. Retinoschisin is discoidin domain-containing protein that is localized along the extracellular surfaces of rod and cone photoreceptors and bipolar cells including the synapses. It is undetectable in the inner plexiform layers and the inner nuclear layer. It is active in cell adhesion process during retinal development and maintains the cellular organization and synaptic structure of the retina. Retinoschisin is a homooctamer of 4 homodimers that are linked by disulfide bonds. It contains a single F5/8 type C domain. Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males, which is characterized by a negative electroretinogram pattern and by a splitting of the inner retina. Approximately half of cases of X-linked retinoschisis have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Retinoschisin levels are shown to be up-regulated during the differentiation of a retinoblastoma cell line.