Aliases for RS1 Gene
External Ids for RS1 Gene
Previous HGNC Symbols for RS1 Gene
Previous GeneCards Identifiers for RS1 Gene
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]
GeneCards Summary for RS1 Gene
RS1 (Retinoschisin 1) is a Protein Coding gene. Diseases associated with RS1 include Retinoschisis 1, X-Linked, Juvenile and Fundus Dystrophy. Among its related pathways are Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is DCBLD1.
UniProtKB/Swiss-Prot Summary for RS1 Gene
Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). 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).