N-acetylglucosamine-6-sulfatase

Glucosamine (N-acetyl)-6-sulfatase
Identifiers
Symbols	GNS ; G6S
External IDs	OMIM: 607664 HomoloGene: 1568 GeneCards: GNS Gene
EC number	3.1.6.14
Gene ontology Molecular function • protein binding • N-acetylglucosamine-6-sulfatase activity • sulfuric ester hydrolase activity • metal ion binding Cellular component • lysosomal lumen • extracellular exosome Biological process • carbohydrate metabolic process • glycosaminoglycan catabolic process • glycosaminoglycan metabolic process • keratan sulfate metabolic process • keratan sulfate catabolic process • small molecule metabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2799	75612
Ensembl	ENSG00000135677	ENSMUSG00000034707
UniProt	P15586	Q8BFR4
RefSeq (mRNA)	NM_002076	NM_029364
RefSeq (protein)	NP_002067	NP_083640
Location (UCSC)	Chr 12: 64.71 – 64.76 Mb	Chr 10: 121.37 – 121.4 Mb
PubMed search

N-acetylglucosamine-6-sulfatase
Identifiers
EC number	3.1.6.14
CAS number	60320-99-2
Databases
IntEnz	IntEnz view
BRENDA	BRENDA entry
ExPASy	NiceZyme view
KEGG	KEGG entry
MetaCyc	metabolic pathway
PRIAM	profile
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / EGO
Search PMC articles PubMed articles NCBI proteins

N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-6-sulfatase is an enzyme that in humans is encoded by the GNS gene.^[1] This enzyme is deficient in Sanfilippo Syndrome type IIId.^[2][3][4] This enzyme catalyses the following chemical reaction:

Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate

Function

N-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate.^[1]

Clinical significance

Deficiency of this enzyme results in the accumulation of undergraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.^[1]

Nomenclature

The systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:

• N-acetylglucosamine-6-sulfatase,
• glucosamine (N-acetyl)-6-sulfatase,
• 2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase,
• N-acetylglucosamine 6-sulfate sulfatase,
• O,N-disulfate O-sulfohydrolase,
• acetylglucosamine 6-sulfatase,
• chondroitinsulfatase, and
• glucosamine-6-sulfatase.

References

1. "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".
2. Basner R, Kresse H, von Figura K (February 1979). "N-Acetylglucosamine-6-sulfate sulfatase from human urine". J. Biol. Chem. 254 (4): 1151–8. PMID 762121.
3. Kresse H, Fuchs W, Glössl J, Holtfrerich D, Gilberg W (December 1981). "N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A". J. Biol. Chem. 256 (24): 12926–32. PMID 6458607.
4. Weissmann B, Chao H, Chow P (November 1980). "A glucosamine O,N-disulfate O-sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate". Biochem. Biophys. Res. Commun. 97 (2): 827–33. doi:10.1016/0006-291x(80)90338-1. PMID 6451222.

External links

• N-acetylglucosamine-6-sulfatase at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.