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Literature summary for 3.2.1.76 extracted from
- Residual alpha-L-iduronidase activity in fibroblasts of mild to severe mucopolysaccharidosis type I patients (2013), Mol. Genet. Metab., 109, 377-381.
Application
| Application | Comment | Organism |
|---|---|---|
| diagnostics | determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. Early recognition of the phenotype of MPS I patients is essential to timely initiate the most appropriate therapeutic strategy | Homo sapiens |
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| genotyping of different mucopolysaccharidosis type I patient cell lines, overview | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| 134del12 | homozygous genotype with only residual enzyme activity | Homo sapiens |
| A327P | A327P/A327P and A327P/unknown, naturally occuring homozygous and indefinite mutant genotypes with only residual enzyme activity at 37°C | Homo sapiens |
| A327P | homozygous genotype with only residual enzyme activity | Homo sapiens |
| A327P/R383H | a genotype with only residual enzyme activity | Homo sapiens |
| E276K | E276K/E276K is a naturally occuring rare homozygous mutant genotype with only residual enzyme activity and thermal instability at 37°C | Homo sapiens |
| L218P | homozygous genotype with only residual enzyme activity | Homo sapiens |
| L490P | homozygous genotype with only residual enzyme activity | Homo sapiens |
| P533R | homozygous genotype with only residual enzyme activity | Homo sapiens |
| Q70X | homozygous genotype with only residual enzyme activity | Homo sapiens |
| Q70X/R383H | a genotype with only residual enzyme activity | Homo sapiens |
| R383H | homozygous genotype with only residual enzyme activity | Homo sapiens |
| R621X/974ins12 | a genotype with only residual enzyme activity | Homo sapiens |
| W402X | homozygous genotype with only residual enzyme activity | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| lysosome | - |
Homo sapiens | 5764 | - |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| fibroblast | - |
Homo sapiens | - |
Specific Activity [micromol/min/mg]
| Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
|---|---|---|---|
| 0.0033 | 0.0053 | wild-type cell lines, pH not specified in the publication, 37°C | Homo sapiens |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| 4-methylumbelliferyl-alpha-L-iduronide + H2O | - |
Homo sapiens | 4-methylumbelliferol + alpha-L-iduronic acid | - |
? |  |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| alpha-L-iduronidase | - |
Homo sapiens |
| IDUA | - |
Homo sapiens |
Temperature Optimum [°C]
| Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|
| 37 | - |
assay at | Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | mucopolysaccharidosis type I, MPS I, is an autosomal recessively inherited lysosomal storage disorder caused by the lack of alpha-L-iduronidase which leads to accumulation of glycosaminoglycans in the lysosome, genotyping of cell lines with residual enzyme activity, overview | Homo sapiens |
| physiological function | the enzyme is involved in the degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate | Homo sapiens |
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