72 kDa inositol polyphosphate 5-phosphatase, also known as phosphatidylinositol-4,5-bisphosphate 5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene.
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Function
INPP5E is a phosphatidyl inositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its intracellular localzation is the primary cilium, a small organelle involved in signal transduction. INPP5E plays a role in hydrolizing PtdInsP3 produced in response to various growth factors such as PDGF. Inactivation of the mouse INPP5E gene decreases primary cilia stability, leading to a multiorgan disorder, including absence of eyes, polydactyly, exencephaly and renal cysts.
Clinical significance
Mutations in the INPP5E are associated with MORM syndrome and Joubert syndrome.