Literature summary for 3.1.6.4 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.

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

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)