Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate

Stable Identifier
R-HSA-2263490
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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From a recent review of mutations for MPSIVA (MIM:253000) (Tomatsu et al. 2005), almost 80% of mutations in N-acetylgalactosamine 6-sulfatase (GALNS; MIM:612222) were missense mutations and of these, the most common ones are R386C, G301C and I113F.

Literature References
PubMed ID Title Journal Year
16287098 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Tomatsu, S, Montaño, AM, Nishioka, T, Gutierrez, MA, Peña, OM, Tranda Firescu, GG, Lopez, P, Yamaguchi, S, Noguchi, A, Orii, T

Hum Mutat 2005
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
N-acetylgalactosamine-6-sulfatase activity of GALNS mutants [lysosomal lumen]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
mucopolysaccharidosis IV 12804 mucopolysaccharidosis type IVA, Osteochondrodystrophy, deficiency of N-acetylgalactosamine-6-sulphatase, chondroosteodystrophy, Osteochondrodystrophy, Morquio syndrome A, MORQUIO A DISEASE, Mucopolysaccharidosis, MPS-IV-A (disorder), Mucopolysaccharidosis, MPS-IV, deficiency of chondroitinsulphatase, GALACTOSAMINE-6-SULFATASE DEFICIENCY
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