N-acetylglucosamine 6-sulfatase (GNS) hydrolyses 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of keratan sulfate

Stable Identifier
R-HSA-1638032
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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N-acetylglucosamine 6-sulfatase (GNS) is a lysosomal enzyme which degrades glycosaminoglycans such as heparan sulfate and keratan sulfate. GNS shows strong sequence similarity to other sulphatases such as the family of arylsulfatases and the conversion to 3-oxo-alanine (formylglycine, FGly) of a cysteine residue is critical for catalytic activity, based on this similarity (Robertson et al. 1992, Robertson et al. 1988). Defects in GNS are the cause of mucopolysaccharidosis type IIID (MPSIIID, MIM:252940), also called Sanfilippo D syndrome (Valstar et al. 2010).

Literature References
PubMed ID Title Journal Year
1463457 A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases

Robertson, DA, Freeman, C, Morris, CP, Hopwood, JJ

Biochem J 1992
20232353 Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Valstar, MJ, Bertoli-Avella, AM, Wessels, MW, Ruijter, GJ, de Graaf, B, Olmer, R, Elfferich, P, Neijs, S, Kariminejad, R, Suheyl Ezgü, F, Tokatli, A, Czartoryska, B, Bosschaart, AN, van den Bos-Terpstra, F, Puissant, H, Bürger, F, Omran, H, Eckert, D, Filocamo, M, Simeonov, E, Willems, PJ, Wevers, RA, Niermeijer, MF, Halley, DJ, Poorthuis, BJ, van Diggelen, OP

Hum Mutat 2010
3196333 Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

Robertson, DA, Freeman, C, Nelson, PV, Morris, CP, Hopwood, JJ

Biochem Biophys Res Commun 1988
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
N-acetylglucosamine-6-sulfatase activity of OxA-GNS [lysosomal lumen]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created