Glutathione Synthetase (GSS) Antibody – Mouse Monoclonal

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

GSS: 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.

Protein type: EC 6.3.2.3; Ligase; Other Amino Acids Metabolism - glutathione

Chromosomal Location of Human Ortholog: 20q11.22

Cellular Component: cytosol

Molecular Function: ATP binding; glutathione binding; glutathione synthase activity; identical protein binding; magnesium ion binding; protein binding; protein homodimerization activity

Biological Process: amino acid metabolic process; glutathione biosynthetic process; nervous system development; response to oxidative stress

Disease: Glutathione Synthetase Deficiency; Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To