ROPOF2B

ROPOF2B, also known as RP2, is a protein encoded by the RP2 gene. This gene is primarily expressed in the retina, particularly in photoreceptor cells. The RP2 protein is involved in the visual cycle, a process crucial for vision. Specifically, it plays a role in the proper functioning of the phototransduction cascade, the series of events that convert light into an electrical signal.

Mutations in the RP2 gene have been linked to certain forms of inherited retinal diseases, most notably X-linked retinitis pigmentosa (XLRP). XLRP is a group of genetic disorders characterized by progressive degeneration of photoreceptor cells, leading to vision loss. Different mutations in RP2 can result in varying severity and progression of the disease. The X-linked inheritance pattern means that the gene is located on the X chromosome, and thus predominantly affects males. Research into ROPOF2B and its function is ongoing to better understand its role in vision and to develop potential therapeutic strategies for related retinal disorders.