Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
Golgi apparatus | - |
Homo sapiens | 5794 | - |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
kidney cell line | fibroblast cell line from patients with oculocerebrorenal syndrome of Lowe | Homo sapiens | - |
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 | - |
Homo sapiens | phosphatidylinositol 4-phosphate + phosphate | - |
? |