Application | Comment | Organism |
---|---|---|
medicine | transgenic mouse expressing human mutant alpha-galactosidase R301Q in an endogenous enzyme deficient background is a biochemical animal model for studying active site specific chaperone therapy for Fabry disease | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
transgenic mouse expressing human mutant alpha-galactosidase R301Q in an endogenous enzyme deficient background is a biochemical animal model for studying active site specific chaperone therapy for Fabry disease. Oral administration of 1-deoxygalactonojirimycin, a competitive inhibitor of alpha-galactosidase A and an effective active-site specific chaperone for Fabry disease, at 0.05 mM in the drinking water of the mice for 2 weeks results in 13.8-, 3.3-, 3.9-, and 2.6fold increase in enzyme activities in the heart, kidney, spleen and liver, respectively | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
N-acetyl-D-galactosamine | - |
Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
globotriaosylceramide + H2O | Homo sapiens | i.e. D-Galalpha(1,4)D-Galalpha(1,4)D-Glu-ceramide | D-Galalpha(1,4)D-Glu-ceramide + D-galactose | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl alpha-D-galactoside + H2O | - |
Homo sapiens | alpha-D-galactose + 4-methylumbelliferone | - |
? | |
globotriaosylceramide + H2O | i.e. D-Galalpha(1,4)D-Galalpha(1,4)D-Glu-ceramide | Homo sapiens | D-Galalpha(1,4)D-Glu-ceramide + D-galactose | - |
? |
Synonyms | Comment | Organism |
---|---|---|
alpha-galactosidase A | - |
Homo sapiens |