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Gene Review

INPP5E  -  inositol polyphosphate-5-phosphatase, 72 kDa

Homo sapiens

Synonyms: 72 kDa inositol polyphosphate 5-phosphatase, CORS1, CPD4, JBTS1, MORMS, ...
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Disease relevance of INPP5E


High impact information on INPP5E


Biological context of INPP5E


Other interactions of INPP5E


Analytical, diagnostic and therapeutic context of INPP5E


  1. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Zhang, X., Jefferson, A.B., Auethavekiat, V., Majerus, P.W. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  2. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Suchy, S.F., Nussbaum, R.L. Am. J. Hum. Genet. (2002) [Pubmed]
  3. Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Suchy, S.F., Olivos-Glander, I.M., Nussabaum, R.L. Hum. Mol. Genet. (1995) [Pubmed]
  4. Novel OCRL1 mutations in patients with the phenotype of Dent disease. Utsch, B., B??kenkamp, A., Benz, M.R., Besbas, N., D??tsch, J., Franke, I., Fr??nd, S., Gok, F., Hoppe, B., Karle, S., Kuwertz-Br??king, E., Laube, G., Neb, M., Nuutinen, M., Ozaltin, F., Rascher, W., Ring, T., Tasic, V., van Wijk, J.A., Ludwig, M. Am. J. Kidney Dis. (2006) [Pubmed]
  5. First report of prenatal biochemical diagnosis of Lowe syndrome. Suchy, S.F., Lin, T., Horwitz, J.A., O'Brien, W.E., Nussbaum, R.L. Prenat. Diagn. (1998) [Pubmed]
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