Inositol Phosphatases in Retinal Ciliary Disorder

Phosphoinositides are phospholipids that regulate signal transduction, endocytosis, and protein trafficking. Each phosphoinositide has a unique pattern of distribution within cellular compartments and is tightly regulated by inositol kinases and phosphatases localized within a specific membrane compartment. Inositol polyphosphate 5-phosphatases regulate phosphoinositide levels and are implicated in human diseases, such as Lowe syndrome and Joubert syndrome. Here we review the pertinent findings of the roles of 5-phosphatases in cilia function and signaling.

Keywords: Cilia, INPP5E, Joubert syndrome, Lowe syndrome, OCRL.