Protein-coding gene in the species Homo sapiens
N -acetylglucosamine-6-sulfataseglucosamine (N -acetyl)-6-sulfatase , systematic nameN -acetyl-D enzyme that in humans is encoded by the GNSgene .[ 5] Sanfilippo Syndrome type IIId.[ 6] [ 7] [ 8] catalyses the hydrolysis of the 6-sulfate groups of theN -acetyl-D -glucosamine 6-sulfate units ofheparan sulfate andkeratan sulfate
N -acetylglucosamine-6-sulfatase is alysosomal enzyme found in all cells. It is involved in thecatabolism ofheparin ,heparan sulphate , andkeratan sulphate .[ 5]
Clinical significance [ edit ] Deficiency of this enzyme results in the accumulation of undergraded substrate and thelysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes ofSanfilippo syndrome .[ 5]
Thesystematic 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 -disulfateO -sulfohydrolase,acetylglucosamine 6-sulfatase, chondroitinsulfatase, and glucosamine-6-sulfatase. ^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 -disulfateO -sulfohydrolase with a probable role in mammalian catabolism of heparan sulfate".Biochem. Biophys. Res. Commun .97 (2):827– 33.Bibcode :1980BBRC...97..827W .doi :10.1016/0006-291x(80)90338-1 .PMID 6451222 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
Activity Regulation Classification Kinetics Types
