However, upon inactivation of the phosphoinositide 4-phosphatase INPP5E (observed in ciliopathies due to mutations in INPP5E), its substrate the PtdIns(4,5)P2 (enriched at the plasma membrane) is detected at the ciliary tip where it recruits its downstream effector TUL3P, which alters the Sonic hedgehog signaling (Shh) pathway [35]. The gene discussed is INPP5E; the disease is ciliopathy.