RPGRIP1L

Function

The protein encoded by this gene is localized to primary cilia and centrosomes in ciliated human epithelial kidney cells. RPGRIP1L colocalized at the basal body-centrosome complex with the proteins NPHP4, NPHP6, and TUBG1.

Clinical significance

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.