LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- The i1-C/T, L1074F and C1367R polymorphisms were examined in 1245 participants aged 85 years and older
- Conclusions
- The polymorphisms were not found to influence aging-trajectories or survival
Variants (3)
1.
- Identifier
- i1-C/T
- Cytogenetic Location
- 8p12
- UCSC Genome Browser
- View 8p12 on the UCSC genome browser
2.
- Identifier
- L1074F
- In Other Studies (IDs)
- 403
- Cytogenetic Location
- 8p12
- UCSC Genome Browser
- View 8p12 on the UCSC genome browser
3.
- Identifier
- C1367R
- In Other Studies (IDs)
- 32 406
- Cytogenetic Location
- 8p12
- UCSC Genome Browser
- View 8p12 on the UCSC genome browser
Gene details
- HGNC symbol
- WRN
- Aliases
- RECQ3; RECQL2; RECQL3
- Common name
- Werner syndrome RecQ like helicase
- Description
- This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 25
- OMIM
- 604611
- Ensembl
- ENSG00000165392
- UniProt/Swiss-Prot
- Q59F09_HUMAN
- Entrez Gene
- 7486
- UniGene
- 632050
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- wrn-1
- Danio rerio
- wrn
- Mus musculus
- Wrn
- Rattus norvegicus
- Wrn
- Saccharomyces cerevisiae
- SGS1