靶标:
INPP5E
产品别名:
CG10426; Dmel\CG10426; INPPE5; IPP; Inpp5e; dInpp5e; INPP5E; Inositol polyphosphate 5-phosphatase E; Inositol polyphosphate 5-phosphatase E; inositol polyphosphate 5-phosphatase E; CG10426-PA; CG10426-PB; INPP5E-PA; INPP5E-PB; pharbin-like; 聚磷酸肌醇磷酸酶5E;
背景信息:
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016],