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GNS
Identifiers
Aliases	GNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDs	OMIM: 607664; MGI: 1922862; HomoloGene: 1568; GeneCards: GNS; OMA:GNS - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12q14.3 Start 64,713,445 bp End 64,759,431 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 D2 Start 121,200,995 bp End 121,233,154 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura kidney tubule retinal pigment epithelium right adrenal cortex stromal cell of endometrium metanephric glomerulus left adrenal gland renal medulla parietal pleura periodontal fiber Top expressed in ciliary body iris stroma of bone marrow retinal pigment epithelium Epithelium of choroid plexus vestibular membrane of cochlear duct decidua epithelium of lens calvaria saccule More reference expression data BioGPS n/a
Gene ontology Molecular function sulfuric ester hydrolase activity protein binding catalytic activity hydrolase activity metal ion binding N-acetylglucosamine-6-sulfatase activity glycosaminoglycan binding Cellular component lysosome lysosomal lumen extracellular exosome extracellular region azurophil granule lumen ficolin-1-rich granule lumen Biological process metabolism glycosaminoglycan catabolic process keratan sulfate catabolic process glycosaminoglycan metabolic process neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2799 75612 Ensembl ENSG00000135677 ENSMUSG00000034707 UniProt P15586 Q8BFR4 RefSeq (mRNA) NM_002076 NM_029364 NM_001364695 RefSeq (protein) NP_002067 NP_002067.1 NP_083640 NP_001351624 Location (UCSC) Chr 12: 64.71 – 64.76 Mb Chr 10: 121.2 – 121.23 Mb PubMed search
Wikidata
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N-acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N-acetyl)-6-sulfatase, systematic name N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase) is an enzyme that in humans is encoded by the GNS gene. It is deficient in Sanfilippo Syndrome type IIId. It catalyses the 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.

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.

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. ^ GRCh38: Ensembl release 89: ENSG00000135677 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000034707 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".
6. Basner R, Kresse H, von Figura K (February 1979). "N-Acetylglucosamine-6-sulfate sulfatase from human urine". J. Biol. Chem. 254 (4): 1151–8. doi:10.1016/S0021-9258(17)34181-9. PMID 762121.
7. 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. doi:10.1016/S0021-9258(18)42985-7. PMID 6458607.
8. 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 U.S. 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.

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• Genes on human chromosome 12
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