LongevityMap Gene
Gene details
- HGNC symbol
- BLM
- Aliases
- BS; RECQ2; RECQL2; RECQL3
- Common name
- Bloom syndrome RecQ like helicase
- Description
- The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 15q26.1
- UCSC Genome Browser
- View 15q26.1 on the UCSC genome browser
- OMIM
- 604610
- Ensembl
- ENSG00000197299
- UniProt/Swiss-Prot
- B7ZKN7_HUMAN
- Entrez Gene
- 641
- UniGene
- 725208
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- him-6
- Danio rerio
- blm
- Drosophila melanogaster
- Blm
- Mus musculus
- Blm
- Rattus norvegicus
- Blm
- Saccharomyces cerevisiae
- SGS1
- Schizosaccharomyces pombe
- rqh1
In other databases
- GenAge model organism genes
- GenAge human genes
- This gene is present as BLM
- CellAge gene expression
- This gene is present as BLM
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
- rs2518967
- Reference