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.[1][2]

Function

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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

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Mutations in the INPP5E are associated with MORM syndrome[3] and Joubert syndrome.[4]

References

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  1. ^ "Entrez Gene: inositol polyphosphate-5-phosphatase".
  2. ^ Kisseleva MV, Wilson MP, Majerus PW (June 2000). "The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase". The Journal of Biological Chemistry. 275 (26): 20110–6. doi:10.1074/jbc.M910119199. PMID 10764818.
  3. ^ Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, Bond J, Riley JH, Woods CG (May 2006). "MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34" (PDF). European Journal of Human Genetics. 14 (5): 543–8. doi:10.1038/sj.ejhg.5201577. PMID 16493448. S2CID 20931689.
  4. ^ Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG (September 2009). "Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies". Nature Genetics. 41 (9): 1032–6. doi:10.1038/ng.423. PMC 2746682. PMID 19668216.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.