Protein-coding gene in the species Homo sapiens
N -acetylglucosamine-6-sulfataseglucosamine (N -acetyl)-6-sulfatase , systematic name N -acetyl-D enzyme that in humans is encoded by the GNS gene .[5] Sanfilippo Syndrome type IIId.[6] [7] [8] catalyses the 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 .[5]
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 .[5]
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 ]
^ 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. doi :10.1016/S0021-9258(17)34181-9 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. doi :10.1016/S0021-9258(18)42985-7 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 .
Activity Regulation Classification Kinetics Types
