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The official name of this gene is “N-acetylglucosaminidase, alpha.”
NAGLU is the gene's official symbol. The NAGLU gene is also known by other names, listed below.
The NAGLU gene provides instructions for producing an enzyme called alpha-N-acetylglucosaminidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules. Alpha-N-acetylglucosaminidase 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. Alpha-N-acetylglucosaminidase removes a sugar called N-acetylglucosamine when it is at the end of the GAG chain.
At least 118 mutations in the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIB reduce or eliminate the function of alpha-N-acetylglucosaminidase.
The lack of alpha-N-acetylglucosaminidase activity disrupts the breakdown of a subset of GAGs called heparan sulfate. As a result, partially broken down heparan sulfate accumulates 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 IIIB.
Cytogenetic Location: 17q21
Molecular Location on chromosome 17: base pairs 40,687,950 to 40,696,466
The NAGLU gene is located on the long (q) arm of chromosome 17 at position 21.
More precisely, the NAGLU gene is located from base pair 40,687,950 to base pair 40,696,466 on chromosome 17.
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 NAGLU 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.
central nervous system ; DNA ; enzyme ; gene ; heparan sulfate ; molecule ; nervous system ; sulfate
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/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.