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