Defects in GSS are the cause of glutathione synthetase deficiency (GSS deficiency); also known as 5- oxoprolinuria or pyroglutamic aciduria. It is a severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. Defects in GSS are the cause of glutathione synthetase deficiency of erythrocytes (GLUSYNDE)[MIM:231900]. Glutathione synthetase deficiency of erythrocytes is a mild form causing hemolytic anemia. Belongs to the eukaryotic GSH synthase family. Note: This description may include information from UniProtKB.
Protein type: Other Amino Acids Metabolism - glutathione; Ligase; EC 22.214.171.124
Cellular Component: cytosol
Molecular Function: protein homodimerization activity; glutathione binding; glycine binding; magnesium ion binding; glutathione synthase activity; ATP binding
Biological Process: amino acid metabolic process; response to nutrient levels; nervous system development; response to cadmium ion; xenobiotic metabolic process; glutathione biosynthetic process; response to oxidative stress; response to amino acid stimulus; aging
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.