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The official name of this gene is “aspartylglucosaminidase.”
AGA is the gene's official symbol. The AGA gene is also known by other names, listed below.
The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Specifically, this enzyme cuts glycoproteins between a protein building block (amino acid) called asparagine and a sugar molecule called N-acetylglucosamine. This cut is one of the last steps in breaking down a glycoprotein in the lysosome.
More than 30 mutations in the AGA gene have been found to cause aspartylglucosaminuria. Most of these mutations change one amino acid in aspartylglucosaminidase. One mutation found in 98 percent of people with this condition in Finland replaces the amino acid cysteine with the amino acid serine at position 163 in the enzyme (written as Cys163Ser or C163S). Many mutations, including C163S, disrupt the proper folding of aspartylglucosaminidase, resulting in an enzyme that cannot effectively break down glycoproteins. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes a progressive decline in mental functioning and the other signs and symptoms of aspartylglucosaminuria.
Cytogenetic Location: 4q34.3
Molecular Location on chromosome 4: base pairs 178,351,927 to 178,363,656
The AGA gene is located on the long (q) arm of chromosome 4 at position 34.3.
More precisely, the AGA gene is located from base pair 178,351,927 to base pair 178,363,656 on chromosome 4.
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 AGA 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.
amino acid ; enzyme ; gene ; lysosome ; molecule ; mutation ; oligosaccharides ; protein ; serine
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.