Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate

Stable Identifier
R-HSA-2263490
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
ReviewStatus
5/5
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Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate
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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)

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

Hum Mutat 2005
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Catalyst Activity

N-acetylgalactosamine-6-sulfatase activity of GALNS mutants [lysosomal lumen]

Physical Entity
GALNS mutants [lysosomal lumen] (Homo sapiens)
Activity
N-acetylgalactosamine-6-sulfatase activity (GO:0043890)
Normal reaction
GALNS oligomer hydrolyses sulfate from Gal6S in keratan sulfate (Homo sapiens)
Functional status

Loss of function of GALNS mutants [lysosomal lumen]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
mucopolysaccharidosis IV DOID: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
Authored
Jassal, B  (2012-05-21)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-05-21)
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