DDX41 is a essential component of the nuclear dsDNA damage response (DDR) pathway. It is recruited to sites of dsDNA breaks by the DNA-dependent protein kinase (DNA-PK) complex, where it promotes the activation of ataxia telangiectasia mutated (ATM) kinase. ATM is a key regulator of the DDR and is responsible for phosphorylating hundreds of proteins in response to DNA damage. Phosphorylation of these proteins leads to the activation of various DDR pathways. DDX41 is also involved in modulating the activity of the p53 tumor suppressor protein. p53 is a key regulator of cell cycle arrest and apoptosis in response to DNA damage. DDX41 promotes the interaction of p53 with MDM2, an E3 ubiquitin ligase that targets p53 for degradation. This interaction prevents the degradation of p53, allowing it to accumulate and exert its downstream functions. DDX41 is thus a key nuclear protein that helps to maintain genomic stability by regulating the DDR and p53 tumor suppressor pathways.
Genomic stability is crucial for the maintenance of cellular homeostasis and the prevention of disease. The DDX41 protein is a key player in maintaining genomic stability by regulating the DNA damage response. DDX41 is a member of the DEAD-box protein family, which is involved in RNA metabolism and DNA repair. DDX41 is essential for the recruitment of repair proteins to sites of DNA damage and for the DNA damage response. In addition, DDX41 is necessary for the efficient repair of double-strand DNA breaks. Mutations in DDX41 are associated with increased susceptibility to cancer and other diseases.