Glutathione synthetase (GSS) (EC 126.96.36.199) is the second enzyme in the glutathione biosynthesis pathway. It catalyses the condensation of gamma-glutamylcysteine and glycine, to form glutathione.
In eukaryotes, this is a homodimeric enzyme. In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5-oxoprolinuria, and increased rate of haemolysis and defective function of the central nervous system. The substrate-binding domain has a 3-layer alpha/beta/alpha structure.
- ^ Njålsson R, Norgren S (2005). "Physiological and pathological aspects of GSH metabolism.". Acta Paediatr 94 (2): 132–7. doi:10.1080/08035250410025285. PMID 15981742.
- ^ Polekhina G, Board PG, Gali RR, Rossjohn J, Parker MW (June 1999). "Molecular basis of glutathione synthetase deficiency and a rare gene permutation event". EMBO J. 18 (12): 3204–13. doi:10.1093/emboj/18.12.3204. PMC 1171401. PMID 10369661.