GNS
Identifiers
Aliases	GNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDs	OMIM: 607664 MGI: 1922862 HomoloGene: 1568 GeneCards: GNS
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q14.3 Start 64,713,445 bp[1] End 64,759,431 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 D2 Start 121,200,995 bp[2] End 121,233,154 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura kidney tubule retinal pigment epithelium stromal cell of endometrium metanephric glomerulus left adrenal gland renal medulla parietal pleura periodontal fiber germinal epithelium Top expressed in ciliary body iris retinal pigment epithelium calvaria saccule conjunctival fornix external carotid artery carotid body internal carotid artery motor neuron 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 [3] [4]
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.^[5] It is deficient in Sanfilippo Syndrome type IIId.^[6][7][8] 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.^[5]

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.^[5]

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.