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Literature summary extracted from

  • Oussoren, E.; Keulemans, J.; van Diggelen, O.P.; Oemardien, L.F.; Timmermans, R.G.; van der Ploeg, A.T.; Ruijter, G.J.
    Residual alpha-L-iduronidase activity in fibroblasts of mild to severe mucopolysaccharidosis type I patients (2013), Mol. Genet. Metab., 109, 377-381.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.2.1.76 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)

EC Number Cloned (Comment) Organism
3.2.1.76 genotyping of different mucopolysaccharidosis type I patient cell lines, overview Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.76 134del12 homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 A327P A327P/A327P and A327P/unknown, naturally occuring homozygous and indefinite mutant genotypes with only residual enzyme activity at 37°C Homo sapiens
3.2.1.76 A327P homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 A327P/R383H a genotype with only residual enzyme activity Homo sapiens
3.2.1.76 E276K E276K/E276K is a naturally occuring rare homozygous mutant genotype with only residual enzyme activity and thermal instability at 37°C Homo sapiens
3.2.1.76 L218P homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 L490P homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 P533R homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 Q70X homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 Q70X/R383H a genotype with only residual enzyme activity Homo sapiens
3.2.1.76 R383H homozygous genotype with only residual enzyme activity Homo sapiens
3.2.1.76 R621X/974ins12 a genotype with only residual enzyme activity Homo sapiens
3.2.1.76 W402X homozygous genotype with only residual enzyme activity Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
3.2.1.76 lysosome
-
 Homo sapiens 5764
-

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.76 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.76 fibroblast
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
3.2.1.76 0.0033 0.0053 wild-type cell lines, pH not specified in the publication, 37°C Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.76 4-methylumbelliferyl-alpha-L-iduronide + H2O
-
 Homo sapiens 4-methylumbelliferol + alpha-L-iduronic acid
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.76 alpha-L-iduronidase
-
 Homo sapiens
3.2.1.76 IDUA
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
3.2.1.76 37
-
 assay at Homo sapiens

General Information

EC Number General Information Comment Organism
3.2.1.76 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
3.2.1.76 physiological function the enzyme is involved in the degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate Homo sapiens