DISEASES

Disease-gene associations mined from literature

Literature associating RMI1 and Rothmund-Thomson syndrome

RMI1 [ENSP00000317039]

RecQ-mediated genome instability protein 1; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A- mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability. ; Belongs to the RMI1 family.

Synonyms:  RMI1,  RMI1p,  hRMI1,  A0A0A0MSU3,  Q9H9A7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM