Retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1)

Retinitis pigmentosa GTPase regulator-interacting protein 1 (RPGRIP1) is a vital scaffolding protein located in the connecting cilium of photoreceptor cells, where it organizes the ciliary transition zone and facilitates protein trafficking between the inner and outer segments (UniProt: Q96KN7). It serves as a critical anchor for the Retinitis pigmentosa GTPase regulator (RPGR) protein, and its absence leads to the rapid degeneration of both rod and cone photoreceptors (PubMed: 11013136). Mutations in the RPGRIP1 gene are a primary cause of Leber congenital amaurosis type 6 (LCA6), a severe form of early-onset retinal dystrophy, as well as cone-rod dystrophy 13 (NCBI Gene: 120839). As a therapeutic target, RPGRIP1 is the focus of gene replacement strategies using adeno-associated viral (AAV) vectors to deliver functional cDNA to the retina (PubMed: 33561314). These therapies aim to halt or reverse vision loss by restoring the structural integrity of the photoreceptor cilium and maintaining cellular homeostasis. Clinical and preclinical studies emphasize the importance of early intervention to preserve remaining retinal architecture in affected patients.

Other names

RPGRIPLCA6RGRIPCORD13Retinitis pigmentosa GTPase regulator-interacting protein 1

Gene replacement therapy via adeno-associated virus (AAV) vector to deliver a functional copy of the RPGRIP1 gene to photoreceptor cells, restoring protein expression and ciliary function.