Application | Comment | Organism |
---|---|---|
medicine | more than 150 enzyme gene mutations are described in Gaucher patients | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant enzymes by vaccinia based system, the wild-type and mutant enzymes are expressed in Gaucher fibroblast cell line L444P/S107L, HeLa G and BSC40, only enzyme-deficient fibroblasts are suitable for expression using plasmid transfection | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
1263del55 | the activity is significantly reduced | Homo sapiens |
1326insT | the activity is significantly reduced | Homo sapiens |
72delC | the activity is significantly reduced | Homo sapiens |
D409H | the activity is significantly reduced | Homo sapiens |
D409H/T369M | the activity is significantly reduced | Homo sapiens |
G202E | the activity is significantly reduced | Homo sapiens |
L444P | the activity is significantly reduced | Homo sapiens |
L444P/V460V | the activity is significantly reduced | Homo sapiens |
N370S | the activity is significantly reduced | Homo sapiens |
S196P | the activity is significantly reduced | Homo sapiens |
T369M | the activity is significantly reduced | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
0.02 | - |
expressed activity of wild-type enzyme | Homo sapiens |