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).
Other Names
retinoschisin; retinoschisis (X-linked, juvenile) 1; RS; X-linked juvenile retinoschisis protein; XLRS1; XLRS1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 6247
- OMIM: 312700
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
