GSR Chromosome 8
Glutathione-disulfide reductase
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What This Gene Does
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]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
8p12
Ensembl
ENSG00000104687
Associated Conditions (5)
Hemolytic anemia due to glutathione reductase deficiency
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
GSR-related disorder
Key Variants
RS141805635
Conflicting classifications of pathogenicity
Health Risk
RS151187899
Conflicting classifications of pathogenicity
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
RS201798705
Conflicting classifications of pathogenicity
Health Risk
RS558898648
Conflicting classifications of pathogenicity
Health Risk
RS759875729
Conflicting classifications of pathogenicity
Health Risk
RS770133920
Conflicting classifications of pathogenicity
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
RS8190972
Conflicting classifications of pathogenicity
Hemolytic anemia due to glutathione reductase deficiency, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Malignant tumor of esophagus
Health Risk
RS8190976
Conflicting classifications of pathogenicity
GSR-related disorder, Hemolytic anemia due to glutathione reductase deficiency, GSR-related disorder
Health Risk
RS1040248294
Likely pathogenic
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
RS2486583478
Likely pathogenic
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
RS1345036090
Pathogenic
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
RS1586033745
Pathogenic
Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141805635 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151187899 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |
| RS201798705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558898648 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759875729 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770133920 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |
| RS8190972 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to glutathione reductase deficiency, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Malignant tumor of esophagus |
| RS8190976 | Health Risk | Conflicting classifications of pathogenicity | GSR-related disorder, Hemolytic anemia due to glutathione reductase deficiency, GSR-related disorder |
| RS1040248294 | Health Risk | Likely pathogenic | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |
| RS2486583478 | Health Risk | Likely pathogenic | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |
| RS1345036090 | Health Risk | Pathogenic | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |
| RS1586033745 | Health Risk | Pathogenic | Hemolytic anemia due to glutathione reductase deficiency, Hemolytic anemia due to glutathione reductase deficiency |