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Literature summary for 3.1.3.36 extracted from

  • Suchy, S.F.; Olivos-Glander, I.; Nussbaum, R.L.
    Lowe syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus (1995), Hum. Mol. Genet., 4, 2245-2250.
    View publication on PubMed

Localization

Localization Comment Organism GeneOntology No. Textmining
Golgi apparatus
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Homo sapiens 5794
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the X-chromosome encoded enzyme is deficient in oculocerebrorenal syndrome ?
-
?
additional information Homo sapiens the primary defect in oculocerebrorenal syndrome of Lowe is a deficiency of Golgi phosphatidylinositol 4,5-diphosphate phosphatase. This disorder results from dysregulation of Golgi function and in this way causes developmental defects in the lens and abnormal renal and neurological function ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney cell line fibroblast cell line from patients with oculocerebrorenal syndrome of Lowe Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the X-chromosome encoded enzyme is deficient in oculocerebrorenal syndrome Homo sapiens ?
-
?
additional information the primary defect in oculocerebrorenal syndrome of Lowe is a deficiency of Golgi phosphatidylinositol 4,5-diphosphate phosphatase. This disorder results from dysregulation of Golgi function and in this way causes developmental defects in the lens and abnormal renal and neurological function Homo sapiens ?
-
?
phosphatidyl-myo-inositol 4,5-bisphosphate + H2O
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Homo sapiens phosphatidylinositol 4-phosphate + phosphate
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?