GSR glutathione-disulfide reductase
Gene ID: 2936, updated on 19-Sep-2024Gene type: protein coding
Also known as: GR; GSRD; HEL-75; HEL-S-122m
- See all available tests in GTR for this gene
- Go to complete Gene record for GSR
- Go to Variation Viewer for GSR variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hemolytic anemia due to glutathione reductase deficiency | See labs |
Genomic context
- Location:
- 8p12
- Sequence:
- Chromosome: 8; NC_000008.11 (30678066..30727846, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GSR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GSR database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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