Glutathione synthetase
Function
Catalyzes the production of glutathione from gamma-glutamylcysteine and glycine in an ATP-dependent manner (PubMed:7646467, PubMed:9215686). Glutathione (gamma-glutamylcysteinylglycine, GSH) is the most abundant intracellular thiol in living aerobic cells and is required for numerous processes including the protection of cells against oxidative damage, amino acid transport, the detoxification of foreign compounds, the maintenance of protein sulfhydryl groups in a reduced state and acts as a cofactor for a number of enzymes (PubMed:10369661). Participates in ophthalmate biosynthesis in hepatocytes (By similarity).
Involvement in disease
Glutathione synthetase deficiency
GSS deficiency
Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system.
None
The disease is caused by variants affecting the gene represented in this entry.
Glutathione synthetase deficiency of erythrocytes
GLUSYNDE
Mild form causing hemolytic anemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 2/2.
Sequence Similarities
Belongs to the eukaryotic GSH synthase family.
Alternative names
Glutathione synthetase, GSH synthetase, GSH-S, Glutathione synthase, GSS