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Official Full Name: inositol polyphosphate-5-phosphatase E
Also known as: CPD4; CORS1; JBTS1; MORMS; PPI5PIV; pharbin
The protein encoded by this gene is an inositol 1,4,5-triphosphate (InsP3) 5-phosphatase. Insp35-phosphatase hydrolyzes Ins(1,4,5)P3, Ins(1,4,5)P3 mobilizes intracellular calcium, and acts as a second messenger to mediate cellular responses to various stimuli. Studies in mouse counterparts suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-triphosphate and phosphatidylinositol 3,5-bisphosphate at the cytoplasmic Golgi membrane, thereby regulating Golgi vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogeneous group of disorders characterized by midbrain-hindcephaly malformations and various associated ciliopathies, including retinal dystrophies, nephropathy, hepatic fibrosis, and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms.