ATP-dependent DNA helicase Q4 (RECQL4)

ATP-dependent DNA helicase Q4 (RECQL4) is an enzyme that belongs to the RecQ family of DNA helicases, often referred to as "caretakers of the genome" or “Guardians of the Genome”[1][2][3]. RECQL4 binds and unwinds DNA in a 3’ to 5’ direction, essential for DNA replication initiation and for multiple DNA repair pathways, including homologous recombination and nonhomologous end joining[1][3][4]. It also displays a unique DNA annealing activity among RecQ helicases[3][4]. The protein is found in the nucleus and mitochondria, playing critical roles in maintenance of both nuclear and mitochondrial genomes[1]. Mutations in RECQL4 are associated with several inherited disorders, such as Rothmund–Thomson syndrome, characterized by cancer predisposition, developmental defects, and skin abnormalities[2][4]. RECQL4 is considered a potential therapeutic target in oncology, especially in cancers with high reliance on DNA repair pathways, but there are currently no drugs in clinical use that directly inhibit RECQL4. Its essential roles in genome maintenance, development, and tissue homeostasis pose major safety challenges for therapeutic targeting[1][2][4].

Other names

RecQ like helicase 4RECQ4RecQ4DNA 3'-5' helicase RecQ4DNA helicase RecQ-like type 4RTSRecQ protein-like 4RecQ helicase-like 4

Not applicable (no established drugs); RECQL4’s enzymatic activities are critical for the repair and replication of DNA, so inhibitors would theoretically perturb DNA repair and replication, inducing cell death especially in tumors with DNA repair deficiencies.