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Literature summary for 3.2.1.20 extracted from
- The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase (2009), Hum. Mutat., 30, 1683-1692.
Activating Compound
| Activating Compound | Comment | Organism | Structure |
|---|---|---|---|
| 1-deoxynojirimycin | increases enzyme activity and protein levels in mutants | Homo sapiens |  |
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | potential treatment for Pompe disease | Homo sapiens |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| expression in COS-7 cells | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A445P | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| A610V | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| E579K | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| G377R | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| G549R | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| H612Q | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| L552P | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| M519V | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| N470del | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| P266S | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| P285R | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| P545L | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| S529V | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| V466G | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| Y455F | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
| Y575S | increased activity, enzyme mutants responsive to 1-deoxynojirimycin | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | O43451 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| skin fibroblast | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4-methylumbelliferyl-alpha-D-glucopyranoside + H2O | assay at pH 4.0, 37°C, reaction stopped by addition of glycine or sodium carbonate | Homo sapiens | 4-methylumbelliferone + alpha-D-glucose | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| acid alpha-glucosidase | - |
Homo sapiens |
| GAA | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | - |
assay at | Homo sapiens |
pH Optimum
| pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|
| 4 | - |
assay at | Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | mutations in the gene of the enzyme result in reduced activity, effect is a lysosomal storage disorder, Pompe disease | Homo sapiens |
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