N-acetylglucosamine-6-sulfatase

Glucosamine (N-acetyl)-6-sulfatase
Identifiers
SymbolsGNS ; G6S
External IDsOMIM: 607664 HomoloGene: 1568 GeneCards: GNS Gene
EC number3.1.6.14
Orthologs
SpeciesHumanMouse
Entrez279975612
EnsemblENSG00000135677ENSMUSG00000034707
UniProtP15586Q8BFR4
RefSeq (mRNA)NM_002076NM_029364
RefSeq (protein)NP_002067NP_083640
Location (UCSC)Chr 12:
65.11 – 65.15 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

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:

References

  1. ↑ 1.0 1.1 1.2 "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

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