LongevityMap Gene
Gene details
- HGNC symbol
- RECQL
- Aliases
- RecQ1; RECQL1
- Common name
- RecQ like helicase
- Description
- The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
- Cytogenetic Location
- 12p12.1
- UCSC Genome Browser
- View 12p12.1 on the UCSC genome browser
- OMIM
- 600537
- Ensembl
- ENSG00000004700
- UniProt/Swiss-Prot
- A0A024RAV2_HUMAN
- Entrez Gene
- 5965
- UniGene
- 235069
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- K02F3.12
- Danio rerio
- recql
- Mus musculus
- Recql
- Rattus norvegicus
- Recql
- Saccharomyces cerevisiae
- SGS1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as SGS1
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
- rs2284393
- Reference