GSR gene

glutathione-disulfide reductase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Aug 2010]

From UniProt:

Maintains high levels of reduced glutathione in the cytosol.

From NCBI Gene:

  • HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY

From UniProt:

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. [MIM:618660]

Cytogenetic Location: 8p12, which is the short (p) arm of chromosome 8 at position 12

Molecular Location: base pairs 30,678,061 to 30,727,999 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 8p12, which is the short (p) arm of chromosome 8 at position 12
  • GR
  • GSRD
  • HEL-75
  • HEL-S-122m