DISEASES

Disease-gene associations mined from literature

Literature associating BLM and Bloom syndrome

BLM [ENSP00000347232]

Bloom syndrome, RecQ helicase-like; ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction. Participates in DNA replication and repair. 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). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction; RecQ like helicases

Synonyms:  BLM,  H0YLV8,  H0YNU5,  P54132,  H0YLV8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM