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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.
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.
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.
Cytogenetic Location: 12q14
Molecular Location on chromosome 12: base pairs 64,713,441 to 64,759,445
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 64,713,441 to base pair 64,759,445 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.