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.
Function
INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol 4,5-bisphosphate 5-phosphatase. Its intracellular localization is the primary cilium, a small organelle involved in signal transduction. INPP5E plays a role in hydrolyzing 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.
References
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
