EC Number   |
General Information |
Reference |
|---|
   1.8.3.7 | malfunction |
enzyme dysfunction causes a lysosomal storage disorder known as multiple sulfatase deficiency, where all sulfatases either lack or suffer from a severely reduced, catalytic activity caused by incomplete generation of formylglycine |
742331 |
| 1.8.3.7 | malfunction |
enzyme inactivity results in multiple sulfatase deficiency, a fatal autosomal recessive syndrome |
742234 |
| 1.8.3.7 | malfunction |
multiple sulfatase deficiency is caused by mutations in the SUMF1 gene encoding the formylglycine-generating enzyme |
742630 |
| 1.8.3.7 | malfunction |
structural distortions due to missense mutations in human formylglycine-generating enzyme lead to multiple sulfatase deficiency |
742923 |
| 1.8.3.7 | metabolism |
enzyme overexpression stimulates the generation of catalytically active sulfatases |
742830 |
| 1.8.3.7 | metabolism |
the enzyme posttranslationally activates sulfatases by generating formylglycine in their catalytic sites |
742630 |
| 1.8.3.7 | physiological function |
the enzyme is required for the posttranslational activation of type I sulfatases by oxidation of an active-site cysteine to Ca-formylglycine |
-, 765680 |
