title: The Role of RPGR and Its Interacting Proteins in Ciliopathies.
abstract: 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.
authors.affiliation: Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK.
authors.forename: Sarita Rani
authors.initials: SR
authors.lastname: Patnaik
authors.affiliation: Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK.
authors.forename: Rakesh Kotapati
authors.initials: RK
authors.lastname: Raghupathy
authors.affiliation: Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK.
authors.forename: Xun
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Inverclyde Royal Hospital, Greenock PA16 0XN, UK.
authors.forename: David
authors.identifier: 0000-0002-1336-9865
authors.initials: D
authors.lastname: Mansfield
authors.affiliation: Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK.
authors.forename: Xinhua
authors.identifier: 0000-0003-3760-3019
authors.initials: X
authors.lastname: Shu