Application | Comment | Organism |
---|---|---|
medicine | GBA mutations represent a significant risk factor for the development of Parkinsons disease | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D419A | the mutation is associated with Parkinsons disease | Homo sapiens |
D448H | the mutation is associated with Parkinsons disease | Homo sapiens |
D482N | the mutation is associated with Parkinsons disease | Homo sapiens |
G232E | the mutation is associated with Parkinsons disease | Homo sapiens |
K46E | the mutation is associated with Parkinsons disease | Homo sapiens |
N409S | the mutation is associated with Parkinsons disease | Homo sapiens |
R170C | the mutation is associated with Parkinsons disease | Homo sapiens |
R296Q | the mutation is associated with Parkinsons disease | Homo sapiens |
R502C | the mutation is associated with Parkinsons disease | Homo sapiens |
V497L | the mutation is associated with Parkinsons disease | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
glucosylceramide + H2O | Homo sapiens | - |
beta-D-glucose + ceramide | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
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 |