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Several cases of most cancer tissues showed weak to moderate cytoplasmic positivity. Gliomas, carcinoids, as wells as liver, renal and testis cancers were mainly negative.
GENE INFORMATION
Gene name
INPP5E (HGNC Symbol)
Synonyms
CORS1, JBTS1, PPI5PIV
Description
Inositol polyphosphate-5-phosphatase E (HGNC Symbol)
Entrez gene summary
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.[provided by RefSeq, Feb 2011]