PROFILPELAJAR.COM

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)
End	64,759,431 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	121,233,154 bp
RNA expression pattern
	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
	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
	2799
	75612
	ENSG00000135677
	ENSMUSG00000034707
	P15586
	Q8BFR4
	NM_002076
	NM_029364; NM_001364695
	NP_002067; NP_002067.1
	NP_083640; NP_001351624
	Wikidata
View/Edit Human	View/Edit Mouse

Search
PMC	articles
PubMed	articles
NCBI	proteins

N-acetylglucosamine-6-sulfatase
N-acetylglucosamine-6-sulfatase
Identifiers
EC no.	3.1.6.14
CAS no.	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 / QuickGO
PMC
Search
PMC	articles
PubMed	articles
NCBI	proteins

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]