N-acetylglucosamine-6-sulfatase also known as glucosamine (N-acetyl)-6-sulfatase is an enzyme that in humans is encoded by the GNS gene. This enzyme is deficient in  Sanfilippo Syndrome type IIId.   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.
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.
Nomenclature [ edit ]
systematic name of this enzyme is "N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase". Other accepted names include:
2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase,
N-acetylglucosamine 6-sulfate sulfatase,
References [ edit ]
^ a b c
GRCh38: Ensembl release 89: ENSG00000135677 - Ensembl, May 2017
^ a b c
GRCm38: Ensembl release 89: ENSMUSG00000034707 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ a b c
"Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".
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.
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.
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.