| Entrez gene ID | | 6247 |
| Official gene symbol | | RS1 |
| Full name | | retinoschisin 1 |
| Aliases | | ,RS,XLRS1, |
| Gene summary | | This gene encodes 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. [provided by RefSeq] |
| Location | | Chromosome: X Locus: Xp22.13 |
| Gene position | | 18690223 - 18657808 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 32416 bp |
| Gene sequence |
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| OMIM ID | | 312700 |
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