N-acetylglucosamine-6-sulfatase
Identifiers
EC no.3.1.6.14
CAS no.60320-99-2
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins
GNS
Identifiers
AliasesGNS, G6S, glucosamine (N-acetyl)-6-sulfatase
External IDsOMIM: 607664 MGI: 1922862 HomoloGene: 1568 GeneCards: GNS
Orthologs
SpeciesHumanMouse
Entrez

2799

75612

Ensembl

ENSG00000135677

ENSMUSG00000034707

UniProt

P15586

Q8BFR4

RefSeq (mRNA)

NM_002076

NM_029364
NM_001364695

RefSeq (protein)

NP_002067
NP_002067.1

NP_083640
NP_001351624

Location (UCSC)Chr 12: 64.71 – 64.76 MbChr 10: 121.2 – 121.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000135677 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034707 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: Glucosamine (N-acetyl)-6-sulfatase".
  6. 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.
  7. 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.
  8. 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.

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.