Literature summary extracted from

Tomatsu, S.; Filocamo, M.; Orii, K.O.; Sly, W.S.; Gutierrez, M.A.; Nishioka, T.; Serrato, O.P.; Di Natale, P.; Montano, A.M.; Yamaguchi, S.; Kondo, N.; Orii, T.; Noguchi, A.
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients (2004), Hum. Mutat., 24, 187-188.

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	P357L	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	in chondroitin sulfate or keratan sulfate	Homo sapiens	galactose + sulfate	-	?

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Release 2023.1 (January 2023)