Application | Comment | Organism |
---|---|---|
medicine | Fabry disease is a X-linked inborn error of glycolipid metabolism caused by deficiency of the lysosomal enzyme alpha-galactosidase A. An improved method of production of recombinant alpha-galactosidase A for use in humans is needed in order to develop new approaches for enzyme therapy. Purified recombinant enzyme is taken up by fibroblasts derived from fabry disease patients and normal enzyme levels can be restored under theses conditions | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expression in Pichia pastoris. Purified recombinant enzyme is taken up by fibroblasts dericed from fabry disease patients and normal enzyme levels can be restored under theses conditions | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | Fabry disease is a X-linked inborn error of glycolipid metabolism caused by deficiency of the lysosomal enzyme alpha-galactosidase A. This enzyme is responsible for the hydrolysis of terminal alpha-galactosidase linkages in various glycolipids | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | N-linked high-mannose structures rather than complex carbohydrates are present in the recombinant enzyme | Homo sapiens |
Purification (Comment) | Organism |
---|---|
- |
Homo sapiens |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
74.62 | - |
purified recombinant enzyme | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl alpha-D-galactoside + H2O | - |
Homo sapiens | 4-methylumbelliferone + alpha-D-galactose | - |
? | |
additional information | Fabry disease is a X-linked inborn error of glycolipid metabolism caused by deficiency of the lysosomal enzyme alpha-galactosidase A. This enzyme is responsible for the hydrolysis of terminal alpha-galactosidase linkages in various glycolipids | Homo sapiens | ? | - |
? |