RS1 : retinoschisin 1
Description
The RS1 (retinoschisin 1) is a protein-coding gene located on chromosome X.
The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Retinoschisin attaches (binds) to the surface of specialized cells within the retina that detect light and color (photoreceptor cells). The protein also binds to bipolar cells, which relay light signals from photoreceptor cells to other retinal cells. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and its specialized cells. Retinoschisin is likely involved in the organization of cells in the retina by attaching cells together (cell adhesion).
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). {ECO:0000250|UniProtKB:Q9Z1L4, ECO:0000269|PubMed:19093009, ECO:0000305|PubMed:27114531}
RS1 is also known as RS, XLRS1.
