LongevityMap Gene
Gene details
- HGNC symbol
- LIG4
- Aliases
- LIG4S
- Common name
- DNA ligase 4
- Description
- The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 13q33.3
- UCSC Genome Browser
- View 13q33.3 on the UCSC genome browser
- OMIM
- 601837
- Ensembl
- ENSG00000174405
- UniProt/Swiss-Prot
- A0A024RE06_HUMAN
- Entrez Gene
- 3981
- UniGene
- 166091
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- lig-4
- Danio rerio
- lig4
- Drosophila melanogaster
- Lig4
- Mus musculus
- Lig4
- Rattus norvegicus
- Lig4
- Saccharomyces cerevisiae
- DNL4
- Schizosaccharomyces pombe
- lig4
Studies (1)
Significant/Non-significant: 0/1
- 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
- rs3093748
- Reference