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Protein-coding gene in the species Homo sapiens
N -acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N -acetyl)-6-sulfatase , systematic name N -acetyl-D -glucosamine-6-sulfate 6-sulfohydrolase ) is an
enzyme that in humans is encoded by the GNS
gene .
[5] It is deficient in
Sanfilippo Syndrome type IIId.
[6]
[7]
[8] It
catalyses the 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 .
[5]
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 .
[5]
Nomenclature
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
^
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
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .
Activity Regulation Classification Kinetics Types