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The official name of this gene is “glutathione synthetase.”
GSS is the gene's official symbol. The GSS gene is also known by other names, listed below.
The GSS gene provides instructions for making an enzyme called glutathione synthetase. Glutathione synthetase participates in a process called the gamma-glutamyl cycle. The gamma-glutamyl cycle is a sequence of chemical reactions that takes place in most of the body's cells. These reactions are necessary for the production of glutathione, a small molecule made of three protein building blocks (amino acids). Glutathione protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production. Glutathione is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules. Glutathione also helps process medications and cancer-causing compounds (carcinogens), and helps build DNA, proteins, and other important cellular components.
More than 20 mutations in the GSS gene have been identified in people with glutathione synthetase deficiency. Most of the GSS mutations responsible for this condition change single amino acids in glutathione synthetase. Other mutations disrupt how genetic information from the GSS gene is spliced to make a blueprint for producing this enzyme. The altered glutathione synthetase enzyme may be unstable, shorter than usual, or the wrong shape. All of these changes reduce the activity of the enzyme and disrupt the gamma-glutamyl cycle, preventing adequate production of glutathione.
Cytogenetic Location: 20q11.2
Molecular Location on chromosome 20: base pairs 34,928,432 to 34,955,797
The GSS gene is located on the long (q) arm of chromosome 20 at position 11.2.
More precisely, the GSS gene is located from base pair 34,928,432 to base pair 34,955,797 on chromosome 20.
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 GSS 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.
acids ; ADP ; cancer ; cysteine ; deficiency ; DNA ; enzyme ; gene ; glutathione ; glycine ; L-cysteine ; ligase ; molecule ; oxygen ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://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.