Aliases for GSR Gene
Aliases for GSR Gene
External Ids for GSR Gene
- HGNC: 4623
- NCBI Gene: 2936
- Ensembl: ENSG00000104687
- OMIM®: 138300
- UniProtKB/Swiss-Prot: P00390
Previous GeneCards Identifiers for GSR Gene
- GC08M030441
- GC08M030989
- GC08M030594
- GC08M030593
- GC08M030655
- GC08M029081
- GC08M030535
Summaries for GSR Gene
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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]
GeneCards Summary for GSR Gene
GSR (Glutathione-Disulfide Reductase) is a Protein Coding gene. Diseases associated with GSR include Hemolytic Anemia Due To Glutathione Reductase Deficiency and Riboflavin Deficiency. Among its related pathways are Nuclear events mediated by NFE2L2 and Glutathione conjugation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and flavin adenine dinucleotide binding. An important paralog of this gene is TXNRD2.
UniProtKB/Swiss-Prot Summary for GSR Gene
Maintains high levels of reduced glutathione in the cytosol. ( GSHR_HUMAN,P00390 )