LongevityMap Gene
Gene details
- HGNC symbol
- RECQL4
- Aliases
- RECQ4
- Common name
- RecQ like helicase 4
- Description
- The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
- Cytogenetic Location
- 8q24.3
- UCSC Genome Browser
- View 8q24.3 on the UCSC genome browser
- OMIM
- 603780
- Ensembl
- ENSG00000160957
- UniProt/Swiss-Prot
- RECQ4_HUMAN
- Entrez Gene
- 9401
- UniGene
- 31442
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- RECQL4
- Drosophila melanogaster
- RecQ4
- Mus musculus
- Recql4
- Rattus norvegicus
- Recql4
- Saccharomyces cerevisiae
- SGS1
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as SGS1
- GenAge human genes
- This gene is present as RECQL4
- CellAge
- This gene is present as RECQL4
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
- rs4251689
- Reference