DISEASES

Disease-gene associations mined from literature

Literature associating BLM and Rothmund-Thomson syndrome

BLM [ENSP00000347232]

Bloom syndrome protein; 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 . 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 . ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:24257077, ECO:0000269|PubMed:24816114,

Synonyms:  BLM,  A0A3B3IT82,  H0YLV8,  H0YNU5,  P54132 ...

Linkouts:  STRING  Pharos  UniProt  OMIM