Application | Comment | Organism |
---|---|---|
medicine | enzyme activity is a marker of heterozygous GBA1 mutation Parkonson's disease | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A456P | the mutation is associated with Parkonson's disease | Homo sapiens |
N370S | the mutation is associated with Parkonson's disease | Homo sapiens |
N370S/A456P | the mutations are associated with Parkonson's disease | Homo sapiens |
N370S/R496H | the mutations are associated with Parkonson's disease | Homo sapiens |
R496H | the mutation is associated with Parkonson's disease | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl beta-D-glucopyranoside + H2O | - |
Homo sapiens | 4-methylumbelliferone + beta-D-glucopyranose | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GBA1 | - |
Homo sapiens |
Gcase | - |
Homo sapiens |
glucocerebrosidase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | a lower enzyme activity precedes development of Parkinson's disease | Homo sapiens |