Application | Comment | Organism |
---|---|---|
medicine | GBA mutations are associated with pathologically purer Lewy body disorders, characterized by more extensive (cortical) Lewy body, and less severe Alzheimer disease pathological findings and are a useful marker for Lewy body disorders | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D409H | the GBA mutation is associated with severe Lewy body disorder | Homo sapiens |
E326K | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
E326K/N188R | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
E388K | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
G389V | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
H255Q | the GBA mutation is associated with severe Lewy body disorder | Homo sapiens |
L444P | the GBA mutation is associated with severe Lewy body disorder | Homo sapiens |
N370S | the GBA mutation is associated with mild Lewy body disorder | Homo sapiens |
P171P | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
R463C | the GBA mutation is associated with severe Lewy body disorder | Homo sapiens |
R496H | the GBA mutation is associated with mild Lewy body disorder | Homo sapiens |
T369M | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
W184R | the GBA mutation is associated with Lewy body disorder | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
glucosylceramide + H2O | - |
Homo sapiens | beta-D-glucose + ceramide | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GBA | - |
Homo sapiens |
glucocerebrosidase | - |
Homo sapiens |