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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, ...

Utsch, B. et al., Zhang, X. et al., Suchy, S.F. et al., Suchy, S.F. et al., Suchy, S.F. et al.

Suchy, Lin, Horwitz, O'Brien, Nussbaum, Suchy, Nussbaum,

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Disease relevance of INPP5E

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase [1].

High impact information on INPP5E

Lowe syndrome results from mutations in the OCRL1 gene, which encodes a phosphatidylinositol 4,5 bisphosphate 5-phosphatase located in the trans-Golgi network [2].
Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus [3].

Biological context of INPP5E

A recent study showed that defects in OCRL1, encoding a phosphatidylinositol 4,5-bisphosphate 5-phosphatase (Ocrl) and usually found mutated in patients with Lowe syndrome, also can provoke a Dent-like phenotype (Dent 2 disease) [4].

Other interactions of INPP5E

We also show that OCRL functions as a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in OCRL-expressing Sf9 cells [1].

Analytical, diagnostic and therapeutic context of INPP5E

We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes [5].

References

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]
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Suchy, S.F., Nussbaum, R.L. Am. J. Hum. Genet. (2002) [Pubmed]
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]
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]
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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