LongevityMap Gene
Gene details
- HGNC symbol
- GSR
- Aliases
- HEL-75; HEL-S-122m
- Common name
- glutathione-disulfide reductase
- Description
- 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]
- Cytogenetic Location
- 8p12
- UCSC Genome Browser
- View 8p12 on the UCSC genome browser
- OMIM
- 138300
- Ensembl
- ENSG00000104687
- UniProt/Swiss-Prot
- GSHR_HUMAN
- Entrez Gene
- 2936
- UniGene
- 271510
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- gsr-1
- Danio rerio
- gsr
- Mus musculus
- Gsr
- Rattus norvegicus
- Gsr
- Saccharomyces cerevisiae
- GLR1
- Schizosaccharomyces pombe
- pgr1
In other databases
- GenAge human genes
- This gene is present as GSR
Studies (2)
Significant/Non-significant: 1/1
Study 1
- Longevity Association
- Significant
- Population
- Danish
- Study Design
- Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
- Conclusions
- Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
- Indentifier
- rs1002149
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
- Conclusions
- No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
- Indentifier
- rs3779647
- Reference