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- Table of Contents
Facts about Bloom syndrome protein.
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 (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030).
Human | |
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Gene Name: | BLM |
Uniprot: | P54132 |
Entrez: | 641 |
Belongs to: |
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helicase family |
Bloom syndrome; Bloom syndrome, RecQ helicase-like; BSBloom syndrome protein; DNA helicase, RecQ-like type 2; EC 3.6.1; EC 3.6.4.12; MGC126616; MGC131618; RecQ protein-like 3; RecQ2; RECQ2MGC131620; RECQL3RECQL2
Mass (kDA):
159 kDA
Human | |
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Location: | 15q26.1 |
Sequence: | 15; NC_000015.10 (90717346..90816166) |
Nucleus. Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner.
PMID: 7585968 by Ellis N.A., et al. The Bloom's syndrome gene product is homologous to RecQ helicases.
PMID: 9388193 by Karow J.K., et al. The Bloom's syndrome gene product is a 3'-5' DNA helicase.