| UniProt Protein Function: | Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009). |
| UniProt Protein Details: | |
| NCBI 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, Oct 2008] |
| UniProt Code: | O15537 |
| NCBI GenInfo Identifier: | 10835083 |
| NCBI Gene ID: | 6247 |
| NCBI Accession: | NP_000321.1 |
| UniProt Secondary Accession: | O15537,Q0QD39 |
| UniProt Related Accession: | O15537 |
| Molecular Weight: | 25,592 Da |
| NCBI Full Name: | retinoschisin |
| NCBI Synonym Full Names: | retinoschisin 1 |
| NCBI Official Symbol: | RS1 |
| NCBI Official Synonym Symbols: | RS; XLRS1 |
| NCBI Protein Information: | retinoschisin |
| UniProt Protein Name: | Retinoschisin |
| UniProt Synonym Protein Names: | X-linked juvenile retinoschisis protein |
| Protein Family: | |
| UniProt Gene Name: | RS1 |
| UniProt Entry Name: | |
