RPGRIP1L

RPGRIP1L is a human gene. RPGRIP1L is a human gene. The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells and retinal pigment epithelial cells . RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1.Also, it can interact with MyosinVa Mutations in the RPGRIP1L gene are associated with Joubert syndrome and Meckel syndrome which belong to a group of developmental autosomal recessive disorders that are associated with cilium dysfunction. Mutations in this gene are also associated with nephronophthisis. Copy number variation affecting the gene was associated with schizophrenia in one study.