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 Helicase-Like) is a Protein Coding gene. Diseases associated with BLM include bloom syndrome and rothmund-thomson syndrome. Among its related pathways are Integrated Pancreatic Cancer Pathway and Cell Cycle / Checkpoint Control. GO annotations related to this gene include ATPase activity and ATP-dependent helicase 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).