DISEASES

Disease-gene associations mined from literature

Literature associating RECQL5 and Baller-Gerold syndrome

RECQL5 [ENSP00000317636]

DNA helicase, RecQ-like type 5; Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination; RecQ like helicases

Synonyms:  RECQL5,  RECQL5p,  hRECQL5,  A0A024R8M9,  A0A024R8S8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM