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Reviewed August 2010

What is the official name of the GNS gene?

The official name of this gene is “glucosamine (N-acetyl)-6-sulfatase.”

GNS is the gene's official symbol. The GNS gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the GNS gene?

The GNS gene provides instructions for producing an enzyme called N-acetylglucosamine-6-sulfatase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetylglucosamine-6-sulfatase is involved in the step-wise breakdown of large molecules called glycosaminoglycans (GAGs). GAGs are composed of sugar molecules that are linked together to form a long string. To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. N-acetylglucosamine-6-sulfatase removes a chemical group known as a sulfate from a subset of GAGs called heparan sulfate when the sugar N-acetylglucosamine-6-sulfate is located at the end.

How are changes in the GNS gene related to health conditions?

mucopolysaccharidosis type III - caused by mutations in the GNS gene

Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIID reduce or eliminate the function of N-acetylglucosamine-6-sulfatase.

The lack of N-acetylglucosamine-6-sulfatase activity disrupts the breakdown of heparan sulfate. As a result, partially broken down GAGs accumulate within lysosomes. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS IIID.

Where is the GNS gene located?

Cytogenetic Location: 12q14

Molecular Location on chromosome 12: base pairs 64,713,442 to 64,759,446

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The GNS gene is located on the long (q) arm of chromosome 12 at position 14.

The GNS gene is located on the long (q) arm of chromosome 12 at position 14.

More precisely, the GNS gene is located from base pair 64,713,442 to base pair 64,759,446 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about GNS?

You and your healthcare professional may find the following resources about GNS helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GNS gene or gene products?

  • G6S
  • glucosamine-6-sulfatase
  • MGC21274
  • N-acetylglucosamine-6-sulfatase
  • N-acetylglucosamine-6-sulfatase precursor

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding GNS?

breakdown ; central nervous system ; DNA ; enzyme ; gene ; heparan sulfate ; molecule ; nervous system ; precursor ; sulfate

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: August 2010
Published: February 1, 2016