Cloned (Comment) | Organism |
---|---|
expressed in Nicotiana tabacum cultivar Bright Yellow 2 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L444P | the mutation results in its disrupted folding in the endoplasmic reticulum (ER) and impaired post-ER trafficking. The mutation is associated with Gaucher disease | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
beta-glucocerebrosidase | - |
Homo sapiens |
Gcase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | Gaucher disease is a prevalent lysosomal storage disease characterized by a deficiency in the activity of lysosomal acid beta-glucosidase | Homo sapiens |