RECQL
Description
The RECQL (RecQ like helicase) is a protein-coding gene located on chromosome 12.
ATP-dependent DNA helicase Q1 is an enzyme that in humans is encoded by the RECQL gene. The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. RECQL has been shown to interact with KPNA4 and Karyopherin alpha 2.
DNA helicase that plays a role in DNA damage repair and genome stability. Exhibits a magnesium- and ATP- dependent DNA-helicase activity that unwinds single- and double- stranded DNA in a 3'-5' direction. Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity. Plays a role in restoring regressed replication forks. Required to restart stalled replication forks induced by abortive topoisomerase 1 and 2 lesions. May play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens.
RECQL is also known as RECON, RECQL1, RecQ1.
