LongevityMap Gene
Gene details
- 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]
- Cytogenetic Location
- 5q14.2
- UCSC Genome Browser
- View 5q14.2 on the UCSC genome browser
- OMIM
- 194363
- Ensembl
- ENSG00000152422
- UniProt/Swiss-Prot
- A0A024RAL0_HUMAN
- Entrez Gene
- 7518
- UniGene
- 567359
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (2)
Significant/Non-significant: 0/2
Study 1
- 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
- Indentifier
- I134T
- Reference
Study 2
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
- Conclusions
- The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
- Indentifier
- rs177297
- Reference