Literature summary for 3.1.6.4 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.

Search for more literature for 3.1.6.4

Application

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

Protein Variants

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with mucopolysaccharidosis IVA	-

Substrates and Products (Substrate)

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

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Release 2023.1 (January 2023)