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INPP5E 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.
Gene Name: | inositol polyphosphate-5-phosphatase, 72 kDa |
Family/Subfamily: | Inositol Phosphatase , not assigned-Inositol Phosphatase |
Synonyms: | INPP5E, CPD4, CORS1, MORMS, PPI5PIV, JBTS1, Joubert syndrome 1 |
Target Sequences: | NM_019892 NP_063945.2 Q9NRR6 |
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