GSS gene
The GSS gene provides instructions for making the enzyme glutathione synthetase, which is necessary for producing the antioxidant glutathione.
Normal Function
The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme participates in the gamma-glutamyl cycle, a sequence of chemical reactions that takes place in most of the body's cells to produce glutathione. Glutathione is an antioxidant that protects cells from damage caused by unstable oxygen-containing molecules produced during energy production. It also helps process medications and carcinogens, and assists in building DNA, proteins, and other important cellular components.
Health Conditions Related to Genetic Changes
Glutathione synthetase deficiency
More than 30 mutations in the GSS gene have been identified in people with glutathione synthetase deficiency. Characteristic features include the abnormal destruction of red blood cells (hemolytic anemia), the release of large amounts of 5-oxoproline in the urine (5-oxoprolinuria), and elevated acidity in the blood and tissues (metabolic acidosis). Severely affected individuals may also have neurological problems.
Most GSS mutations change single amino acids or disrupt the genetic blueprint for the enzyme, resulting in an enzyme that may be unstable, shorter than usual, or the wrong shape. These changes reduce the activity of the enzyme and disrupt the gamma-glutamyl cycle, preventing adequate production of glutathione. Low levels of glutathione lead to the overproduction of 5-oxoproline, which accumulates in tissues and causes the associated symptoms.
Other Names for This Gene
- gamma-L-Glutamyl-L-cysteine:glycine ligase (ADP-forming)
- glutathione synthase
- GSH synthetase
- GSHB_HUMAN
- GSHS
- MGC14098