OMIA:000853 : Reduced glutathione deficiency due to GCS deficiency

Categories: Haematopoietic system phene

Possible human homologue (MIM number): 230450 (trait)

Links to MONDO diseases: No links.

Cross-species summary: Glutathione is a small peptide consisting of just three amino acids: glutamic acid, cystein, and glycine. It is a widely-distributed molecule, serving as a reducing agent in many different metabolic processes. One of its most notable roles is in protecting red blood cells from oxidation and haemolysis. Glutathione normally exists in its reduced sulphydral form (GSH; often called reduced glutathione). Its oxidised form consists of two GSH molecules whose cysteines are joined by a di-sulphide bridge (symbolised GSSG). Unlike most peptides, glutathione is not the product of a gene; instead, it is manufactured from its three constituent amino acids in a two-step process catalysed by gamma-glutamylcysteine synthetase (GCS; which creates a di-peptide of glutamic acid and cysteine) and glutathione synthetase (GSHS; which adds glycine). Oxidation of GSH to GSSG is catalysed by glutathione peroxide (GPX); reduction back to GSH is catalysed by glutathione reductase (GR).

Species in which this phene is found:
sheep (Ovis aries)

Edit History

  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 25 Sep 2021