Cloned (Comment) | Organism |
---|---|
the mutated gene is subcloned into the mammalian expression vector pCR(R) 3.1 and expressed by transient transfection in COS cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L336P | 37% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
L444P | 23.4% activity in comparison to wild-type enzyme, the mutation is used as control | Homo sapiens |
M123T | 34.3% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
N370S | 32.1% activity in comparison to wild-type enzyme, the mutation is used as control | Homo sapiens |
P266L | 28.5% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
S364R | 42.7% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
S465del | 5.5% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
V15M | 22.8% activity in comparison to wild-type enzyme, a natural occurring mutation in a patient with Gaucher disease | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P04062 | - |
- |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
Cells transfected with wild-type enzyme diplays significant levels of enzyme activity, about 90% increase with respect to non-transfected cells | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-beta-D-glucopyranoside + H2O | - |
Homo sapiens | 4-methylumbelliferone + beta-D-glucose | - |
? |