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Literature summary extracted from

  • Terzioglu, M.; Tokatli, A.; Coskun, T.; Emre, S.
    Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene (2002), Hum. Mutat., 20, 477-478.
    View publication on PubMed

Application

EC Number Application Comment Organism
3.1.6.4 medicine enzyme defect leads to mucopolysaccharidosis IVA Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.1.6.4 G389del mutation leads to mucopolysaccharidosis IVA Homo sapiens
3.1.6.4 G929del mutation leads to mucopolysaccharidosis IVA Homo sapiens
3.1.6.4 P179S mutation leads to mucopolysaccharidosis IVA Homo sapiens
3.1.6.4 Q473X mutation leads to mucopolysaccharidosis IVA Homo sapiens
3.1.6.4 T763del mutation leads to mucopolysaccharidosis IVA Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.1.6.4 Homo sapiens
-
 patients with mucopolysaccharidosis IVA
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.1.6.4 galactose 6-sulfate + H2O
-
 Homo sapiens galactose + sulfate
-
 ?