''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 Keratan sulfate (KS), also called keratosulfate, is any of several sulfated glycosaminoglycans (structural carbohydrates) that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system w ...

Function

''N''-acetylglucosamine-6-sulfatase is a lysosomal enzyme found in all cells. It is involved in the

catabolism Catabolism () is the set of metabolic pathways that breaks down molecules into smaller units that are either oxidized to release energy or used in other anabolic reactions. Catabolism breaks down large molecules (such as polysaccharides, lipids, ...

heparin Heparin, also known as unfractionated heparin (UFH), is a medication and naturally occurring glycosaminoglycan. Since heparins depend on the activity of antithrombin, they are considered anticoagulants. Specifically it is also used in the treatm ...

, heparan sulphate, and keratan sulphate.

Clinical significance

Deficiency of this enzyme results in the accumulation of undergraded substrate and the

lysosomal storage disorder Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other ...

mucopolysaccharidosis Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within ...

type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome.

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

External links

* EC 3.1.6 {{3.1-enzyme-stub