Symbol: Name: ID: |
RS1 retinoschisin 1 GFS:402 |
Gene name: | RS1 |
Chromosome: | Xp22.2-p22.1 |
Previous Symbols: | RS |
Previous Names: | retinoschisis (X-linked, juvenile) 1 |
Aliases: | XLRS1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1336189 | Rat Genome Database ID: | |
HGNC ID: | HGNC:10457 | RefSeq IDs: | NM_000330 |
Entrez Gene ID: | 6247 | Ensembl Gene ID: | ENSG00000102104 |
VEGA IDs: | OTTHUMG00000021216 | UniProt ID: | O15537 |
UCSC ID: | uc004cyo.2 | OMIM ID: | 312700 |
Pubmed: | PMID9326935 PMID 17804407 | ||
CCDS IDs: | CCDSCCDS14187.1 |
Retinoschisin 1 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for RS1 gene
Catalog | Product Name | Application | Company |
GFS:E00402 | retinoschisin 1; ELISA kit | ELISA | n/a |
GFS:A00402 | retinoschisin 1; Anti | ANTIBODIES | n/a |
GFS:P00402 | retinoschisin 1; Protien | Protien | n/a |