Application | Comment | Organism |
---|---|---|
medicine | Fabry disease is a lysosomal storage disorder caused by deficient lysosomal alpha-galactosidase A activity. Rapid degradation of mutant R301Q is observed in TgM/KO mouse fibroblasts treated with brefeldin A, and the amount of R301Q enzyme markedly increases by pretreatment with 1-deoxygalactonojirimycin starting 12 h prior to addition of brefeldin A. The enhancement of alpha-galactosidase A activity and its protein level by 1-deoxygalactonojirimycin-treatment is selectively observed in brefeldin A-treated COS-7 cells expressing R301Q | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expression in murine fibroblast | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
R301Q | mutant R301Q is rapidly degraded, but degradation is blocked by lactacystin. Rapid degradation of R301Q is observed in TgM/KO mouse fibroblasts treated with brefeldin A, and the amount of R301Q enzyme markedly increases by pretreatment with 1-deoxygalactonojirimycin starting 12 h prior to addition of brefeldin A. The enhancement of alpha-galactosidase A activity and its protein level by 1-deoxygalactonojirimycin-treatment is selectively observed in brefeldin A-treated COS-7 cells expressing R301Q | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
1-deoxygalactonojirimycin | - |
Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | recombinant enzyme expressed in COS-7 cell | Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |