LongevityMap variant
- Longevity Association
- Non-significant
- Population
- English
- Study Design
- I134T polymorphism was examined in a cohort of newborns (n=290) and a retired population (average age at sampling 70.02 years; n=430)
- Conclusions
- No evidence of association with longevity was found
- HGNC symbol
- XRCC4
- Aliases
- SSMED
- Common name
- X-ray repair cross complementing 4
- Description
- The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
- Other longevity studies of this gene
- 17
- OMIM
- 194363
- Ensembl
- ENSG00000152422
- UniProt/Swiss-Prot
- A0A024RAL0_HUMAN
- Entrez Gene
- 7518
- UniGene
- 567359
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- xrcc4
- Mus musculus
- Xrcc4
- Rattus norvegicus
- Xrcc4
Wilding et al. (2006)
Other variants which are also part of this study
