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 Fanconi anemia pathway and Homologous recombination. GO annotations related to this gene include nucleic acid binding and ATPase activity. An important paralog of this gene is RECQL.
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).