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

Danio rerio
blm
Drosophila melanogaster
mus309
Mus musculus
Blm
Rattus norvegicus
Blm
Schizosaccharomyces pombe
rqh1

In other databases

GenAge human genes
  • 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