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RS1 / Retinoschisin 1 is an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.
Gene Name: | retinoschisin 1 |
Synonyms: | RS1, Retinoschisin 1, Retinoschisin, XLRS1, RS |
Target Sequences: | NM_000330 NP_000321.1 O15537 |
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