RPGRIP1L

RPGRIP1L is a human gene.

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.