GSR

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found.

glutathione reductase

Maintains high levels of reduced glutathione in the cytosol.

Cell redox homeostasis Source: GO_Central
Cellular response to oxidative stress Source: GO_Central
Glutathione metabolic process Source: GO_Central

Isoform Mitochondrial: Mitochondrion
Isoform Cytoplasmic: Cytoplasm

Hemolytic anemia due to glutathione reductase deficiency (HAGRD):
An autosomal recessive disease characterized by hemolytic anemia and impaired activity of glutathione reductase. Patients experience hemolytic anemia in response to oxidative stress or ingestion of fava beans.