Aliases for BLM Gene
External Ids for BLM Gene
Previous GeneCards Identifiers for BLM Gene
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]
GeneCards Summary for BLM Gene
BLM (BLM RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and Inherited Cancer-Predisposing Syndrome. Among its related pathways are Metabolism of proteins and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is WRN.
UniProtKB/Swiss-Prot Summary for BLM Gene
ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030).