GNS

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

Wikidata facts

Show 5 more facts

HomoloGene ID: 1568
exact match: identifiers.org/ncbigene/2799
genomic end: 64759431
genomic start: 65107225

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Article

5 sections

Contents

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 ==