Inferred by orthology to human genes with DO annotation (HGNC:1058)
Disease_relevance
Mutations in the human BLM gene (a RecQ family DNA helicase) are implicatd in Bloom syndrome, an inherited disorder characterized by short stature, increased sensitivity to sunlight, a greatly increased risk of cancer and infertility; at the cellular level it is characterized by genomic instability, in particular, hyperrecombination between sister chromatids and homologous chromosomes; the C. elegans BLM ortholog, him-6, exhibits DNA-dependent ATPase activity and mutants show an enhanced irradiation sensitivity, a partially defective S-phase checkpoint, and in reduced levels of DNA-damage induced apoptosis.