N-acetylglucosamine-6-sulfatase
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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
| N-acetylglucosamine-6-sulfatase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC no. | 3.1.6.14 | ||||||||
| CAS no. | 60320-99-2 | ||||||||
| Databases | |||||||||
| BRENDA | enzyme data | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | enzyme entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| Rhea | reactions | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
| |||||||||
| GNS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | GNS, G6S, glucosamine (N-acetyl)-6-sulfatase | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607664; MGI: 1922862; GeneCards: GNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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.
