N-acetylglucosamine-6-sulfatase

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GNS
Identifiers
Aliases GNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDs MGI: 1922862 HomoloGene: 1568 GeneCards: GNS
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002076

NM_029364

RefSeq (protein)

NP_002067
NP_002067.1

NP_083640.1
NP_083640

Location (UCSC) Chr 12: 64.71 – 64.76 Mb Chr 10: 121.37 – 121.4 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse
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

N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-6-sulfatase is an enzyme that in humans is encoded by the GNS gene.[3] This enzyme is deficient in Sanfilippo Syndrome type IIId.[4][5][6] 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[edit]

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.[3]

Clinical significance[edit]

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.[3]

Nomenclature[edit]

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[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b c "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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[edit]

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