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Also known as G6S, glucosamine (N-acetyl)-6-sulfatase
'''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. It is deficient in Sanfilippo Syndrome type IIId. It catalyses the hydrolysis of the 6-sulfate groups of the N''-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate
Gene data
GNS- Name
- glucosamine (N-acetyl)-6-sulfatase
- Type
- protein-coding
- Aliases
- G6S
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded 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. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
glucosamine (N-acetyl)-6-sulfatase
- Symbol
- GNS
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:64,713,442-64,759,449
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 1568
- exact match
- identifiers.org/ncbigene/2799
- genomic end
- 64759431
- genomic start
- 65107225
- cytogenetic location
- 12q14.3
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- Nomenclature
- References
- External links
'''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. It is deficient in Sanfilippo Syndrome type IIId. 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 ==