Application | Comment | Organism |
---|---|---|
medicine | in fibroblasts of patients with Niemann-Pick disease type C, the cholesterol storage affects the stability of enzyme, decreasing its mass and activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
the difference in activity between the control and the mutated cells correlates well with difference in the enzyme mass | Homo sapiens |
0.075 | 0.1 | enzyme in cell lines from two patients with Niemann-Pick disease type C | Homo sapiens |
0.4 | - |
enzyme in normal fibroblasts | Homo sapiens |