''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 Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...

that in humans is encoded by the GNS

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

. It is deficient in

Sanfilippo Syndrome Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called g ...

type IIId. It catalyses the hydrolysis of the 6-sulfate groups of the ''N''-acetyl-D-glucosamine 6-sulfate units of

heparan sulfate Heparan sulfate (HS) is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan (HSPG, i.e. Heparan Sulfate ProteoGlycan) in which two or three HS chains are attached in close proximity to cell surface or extracellular ma ...

and keratan sulfate

Function

''N''-acetylglucosamine-6-sulfatase is a

lysosomal A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane pro ...

enzyme found in all cells. It is involved in the catabolism of heparin, 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 type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of

Sanfilippo syndrome Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called g ...

Nomenclature

The

systematic name A systematic name is a name given in a systematic way to one unique group, organism, object or chemical substance, out of a specific population or collection. Systematic names are usually part of a nomenclature. A semisystematic name or semitrivial ...

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