The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.
INPP5E; inositol polyphosphate-5-phosphatase, 72 kDa; JBTS1, Joubert syndrome 1; 72 kDa inositol polyphosphate 5-phosphatase; CORS1; PPI5PIV; Inositol polyphosphate 5 phosphatase; Phosphatidylinositol (4,5) bisphosphate 5 phosphatase; Phosphatidylinositol polyphosphate 5 phosphatase type IV; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; phosphatidylinositol (4,5) bisphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase type IV; CPD4; JBTS1; MORMS; inositol polyphosphate-5-phosphatase; Innpp5e; im:7152772; zgc:165612; inositol polyphosphate-5-phosphatase E