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 (Bloom Syndrome RecQ Like Helicase) is a Protein Coding gene. Diseases associated with BLM include Bloom Syndrome and Werner Syndrome. Among its related pathways are DNA Double-Strand Break Repair and Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA). GO annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is WRN.
UniProtKB/Swiss-Prot for BLM Gene
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction. 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. Negatively regulates sister chromatid exchange (SCE).