Disease-gene associations mined from literature

Literature associating TOPBP1 and congenital hypoplastic anemia

TOPBP1 [ENSP00000260810]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM