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Target intelligence / Profile preview
RecQ like helicase (RECQL)
- Target
- RECQL
- Molecular classification
- Enzyme (DNA helicase), DNA-repair enzyme, Superfamily 2 (SF2) helicase, RecQ helicase family member
01
Overview
RecQ like helicase (RECQL) is a member of the RecQ DNA helicase family of enzymes, functioning as an ATP-dependent DNA helicase that unwinds double-stranded DNA in a 3’-5’ direction during DNA replication and repair. It is critical for maintaining the integrity and stability of the genome, processing DNA damage and various repair intermediates such as Holliday junctions, and maintaining telomeres. Mutations in RECQL are linked to several rare genetic syndromes (Rothmund-Thomson, RAPADILINO, Baller-Gerold) featuring cancer predisposition, developmental defects, and premature aging; increased expression is observed in some cancers. Therapies targeting RECQL/RecQ1 are under investigation for potential anticancer benefits due to these associations.
- Other names
- RecQ1RecQ helicase-likeRECQL1DNA 3'-5' helicase Q1ATP-dependent DNA helicase Q1DNA helicase Q1-likeRecQ protein-like 1DNA-dependent ATPase Q1RECON
02
Mechanism of action
Hypothetical mechanisms for inhibitors: inhibition of the helicase ATPase activity, blocking DNA binding, interference with DNA unwinding—none currently in clinical use
03
Biological functions
DNA unwinding for replication and repairMaintenance of genomic integrityTelomere maintenanceSuppression of sister chromatid exchangesGenotoxic stress resistanceRegulation of cell cycle progression
04
Disease associations
Cancer (including inherited cancer syndromes)Progeroid syndromes (Recon Progeroid Syndrome)Rothmund-Thomson syndromeRAPADILINO syndromeBaller-Gerold syndrome
05
Safety considerations
Genomic instability if RECQL function is lost or inhibitedPotential acceleration of aging-like syndromesIncreased risk of cancer predisposition
06
Interacting drugs
No approved drugs directly target RECQL/RecQ1 DNA helicases according to available sources; research is ongoing for small-molecule inhibitors/modulators (none clinically used)
07
Biomarkers
RECQL protein expression/mutation status may serve as progression markers in syndromes (Rothmund-Thomson, RAPADILINO, Baller-Gerold), and potentially in certain cancers. No standardized biomarker application recognized in clinical practice
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