Literature associating TOPBP1 and congenital hypoplastic anemia
DNA topoisomerase II-beta-binding protein 1; Required for DNA replication. Plays a role in the rescue of stalled replication forks and checkpoint control. Binds double- stranded DNA breaks and nicks as well as single-stranded DNA. Recruits the SWI/SNF chromatin remodeling complex to E2F1- responsive promoters. Down-regulates E2F1 activity and inhibits E2F1-dependent apoptosis during G1/S transition and after DNA damage. Induces a large increase in the kinase activity of ATR.
Synonyms: TOPBP1, TOPBP1p, hTOPBP1, A0AV47, I3L1F2 ...