Application | Comment | Organism |
---|---|---|
medicine | manipulating the endoplasmic reticulum environment with chemical chaperones can correct the instability of mutant enzyme (causing Gaucher disease) | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G202R | point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation | Homo sapiens |
L444P | point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation | Homo sapiens |
N370S | point mutation can cause Gaucher disease, mutant is destabilized in the neutral pH environment of the endoplasmic reticulum, rendering it prone to endoplasmic reticulum associated degradation | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | point mutations in glucocerebrosidase can cause Gaucher disease, a common lysosomal storage disease | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | point mutations in glucocerebrosidase can cause Gaucher disease, a common lysosomal storage disease | Homo sapiens | ? | - |
? |