RPGR

RPGR retinal pigmentation GTPase regulator is an important protein consisting of multiple isoforms, which are generated through alternative splicing and contain the RLD and CAAX domains. It mainly functions in the connecting cilia of retinal photoreceptor cells. RPGR is involved in the biosynthesis and maintenance of cilia and is crucial for the function of retinal photoreceptor cells. In addition, RPGR acts as a guanine nucleotide exchange factor for the small GTPase RAB37, regulating the activity of RAB37 and affecting the autophagy process. It is also associated with signaling pathways such as Akt, Erk1/2, focal adhesion kinase, and Src, which have important effects on the regulation of actin stress fibers and cell cycle progression in cells. The signaling pathways involved in RPGR include the cilia signaling pathway, the autophagy signaling pathway, and the cytoskeleton regulation signaling pathway. Mutations in RPGR are associated with various genetic retinal diseases, making it an important target for research and treatment of related retinal diseases.