LongevityMap variant

Entry Details

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
Six SNPs (in TNXRD1, XDH, GHRL, MLH1, H2AFX, XRCC5) were associated with mortality in late life after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs10047589
In Other Studies (IDs)
2340
Cytogenetic Location
12q23.3
UCSC Genome Browser
View 12q23.3 on the UCSC genome browser

Gene details

HGNC symbol
TXNRD1
Aliases
TR; TR1; TXNR; TRXR1; GRIM-12 
Common name
thioredoxin reductase 1 
Description
This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other substrates, and plays a role in selenium metabolism and protection against oxidative stress. The functional enzyme is thought to be a homodimer which uses FAD as a cofactor. Each subunit contains a selenocysteine (Sec) residue which is required for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenocysteine-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in several transcript variants encoding the same or different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
15
OMIM
601112
Ensembl
ENSG00000198431
UniProt/Swiss-Prot
B7Z2S5_HUMAN
Entrez Gene
7296
UniGene
654922
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Txnrd1
Rattus norvegicus
Txnrd1

References

Soerensen et al. (2012)

Other variants which are also part of this study