Aliases for RECQL5 Gene
External Ids for RECQL5 Gene
Previous GeneCards Identifiers for RECQL5 Gene
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
GeneCards Summary for RECQL5 Gene
RECQL5 (RecQ Like Helicase 5) is a Protein Coding gene. Diseases associated with RECQL5 include Rothmund-Thomson Syndrome, Type 2 and Bloom Syndrome. Among its related pathways are DNA Damage. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is BLM.
UniProtKB/Swiss-Prot Summary for RECQL5 Gene
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.