What does the RP2gene do?
The RP2gene is located on the X chromosome and provides instructions for making a protein (RP2) that is important for the structure and function of photoreceptor cells in the retina. RP2 is especially important in the light-sensing part of photoreceptors, where it helps build and organize tiny stacked membranes needed to detect light and send visual signals to the brain. It also helps guide other proteins to the right place inside these cells and may play additional roles that have not yet been fully revealed.
More than 130 different RP2mutations have been found in patients with RP2-associated RP. If, due to variants in the RP2gene, the protein’s function is reduced or lost, the light-sensing membranes in photoreceptors become disorganized and gradually break down. Studies in mice lacking a working RP2gene show that both rod and cone photoreceptors slowly lose function and degenerate over time, and important light-detecting proteins end up mislocalized within the cells. The exact mechanisms by which RP2gene defects are linked to this cell damage are not yet fully understood, but remain an active area of research.
RP2