Cloned (Comment) | Organism |
---|---|
expression in mouse fibroblasts NIH3T3 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D409H | a transport block in the endoplasmic reticulum of the enzyme with the mutation D409H | Homo sapiens |
G202R | a transport block in the endoplasmic reticulum of the enzyme with the mutation G202R | Homo sapiens |
L444P | a transport block in the endoplasmic reticulum of the enzyme with the mutation L444P | Homo sapiens |
N370S | retarded transport of glucocerebrosidase carrying the mutation | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |