Gene: GSR

Alternate names for this Gene: GR|GSRD|HEL-75|HEL-S-122m

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p12

Description of this Gene: glutathione-disulfide reductase

Type of Gene: protein-coding

rs8191030 in GSR gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs149176864 in GSR gene and Prostate carcinoma PMID 31095341 2020 Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy.

rs8191030 in GSR gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.