The Role of RPGR and Its Interacting Proteins in Ciliopathies

Abstract EN

Ciliopathies encompass a group of genetic disorders characterized by defects in the formation, maintenance, or function of cilia.

Retinitis pigmentosa (RP) is frequently one of the clinical features presented in diverse ciliopathies.

RP is a heterogeneous group of inherited retinal disorders, characterized by the death of photoreceptors and affecting more than one million individuals worldwide.

The retinitis pigmentosa GTPase regulator (RPGR) gene is mutated in up to 20% of all RP patients.

RPGR protein has different interacting partners to function in ciliary protein trafficking.

In this review, we specifically focus on RPGR and its two interacting proteins: RPGRIP1 and RPGRIP1L.

We summarize the function of the three proteins and highlight recent studies that provide insight into the cellular function of those proteins.