RS1, Official Symbol RS1provided by HGNC Official Full Name retinoschisin 1provided by HGNC Primary source HGNC:HGNC:10457 See related Ensembl:ENSG00000102104 MIM:300839; AllianceGenome:HGNC:10457 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RS; XLRS1 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] Expression Low expression observed in reference dataset See more Orthologs mouse all