Retinitis pigmentosa GTPase regulator-interacting protein 1-like (RPGRIP1L)

Retinitis pigmentosa GTPase regulator-interacting protein 1-like (RPGRIP1L) is a protein localizing to the ciliary transition zone and basal body-centrosome complex of ciliated epithelial cells, where it acts as a scaffold essential for organizing signaling complexes and maintaining ciliary structure. It interacts with other ciliary proteins, including nephrocystin-4, and plays a critical role in the regulation of primary cilium-mediated processes such as cell signaling, planar cell polarity, craniofacial and limb development, and potentially programmed cell death. Loss-of-function mutations or defects in RPGRIP1L lead to ciliopathies, including Joubert syndrome type 7 (JBTS7), Meckel syndrome type 5 (MKS5), and nephronophthisis (NPHP8), all autosomal recessive disorders associated with developmental anomalies. Variations in RPGRIP1L are also implicated in obesity and may influence susceptibility to schizophrenia. There are no known approved drugs directly targeting RPGRIP1L at this time[1][2][6].

Other names

Protein fantomFTMKIAA1005NPHP8CORS3JBTS7MKS5PPP1R134Nephrocystin-8COACH3fantom homologMeckel syndrome, type 5 proteinprotein phosphatase 1 regulatory subunit 134RPGR-interacting protein 1-like protein