Gene Symbol | GSR |
Entrez Gene ID | 2936 |
Full Name | glutathione-disulfide reductase |
Synonyms | HEL-75,HEL-S-122m |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to glutathione reductase deficiency (1) |