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Reviewed August 2010
What is the official name of the HGSNAT gene?
The official name of this gene is “heparan-alpha-glucosaminide N-acetyltransferase.”
HGSNAT is the gene's official symbol. The HGSNAT 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 HGSNAT gene?
The HGSNAT gene provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase (which is often shortened to N-acetyltransferase). This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. N-acetyltransferase is involved in the step-wise breakdown (degradation) 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-acetyltransferase adds a molecule called an acetyl group to the sugar glucosamine in a subset of GAGs called heparan sulfate. This addition prepares the GAG for the next step in the degradation process.
How are changes in the HGSNAT gene related to health conditions?
Where is the HGSNAT gene located?
Cytogenetic Location: 8p11.1
Molecular Location on chromosome 8: base pairs 42,995,591 to 43,057,969
The HGSNAT gene is located on the short (p) arm of chromosome 8 at position 11.1.
More precisely, the HGSNAT gene is located from base pair 42,995,591 to base pair 43,057,969 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HGSNAT?
You and your healthcare professional may find the following resources about HGSNAT 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 HGSNAT gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 HGSNAT?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.