Ddx3x, also known as DBX or DDX3, is a DEAD-box helicase family member. It functions in nearly all stages of RNA metabolism, participating in various biological processes like cellular stress response, innate immune response, and embryo development. It is also involved in multiple diseases, including virus infection, inflammation, intellectual disabilities, and cancer [1].

In the context of disease, hepatocyte-specific Ddx3x knockout (DDX3XΔhep) mice were used to study drug-induced liver injury (DILI). Compared to wild-type (DDX3Xfl/fl) mice, DDX3XΔhep mice developed more significant liver injury in multiple DILI models. Ddx3x deficiency aggravated oxidative stress and hepatocyte death by affecting pro-survival stress granule assembly and induced inflammatory responses [3]. In the study of neurodevelopment, pathogenic Ddx3x mutations in humans were found to impair RNA metabolism and neurogenesis during fetal cortical development. Mouse genetics were used to show that Ddx3x controls cortical development by regulating neuron generation, and severe missense mutations disrupted RNA helicase activity, induced ectopic RNA-protein granules, and impaired translation [2].

In conclusion, Ddx3x is crucial for RNA metabolism and plays significant roles in multiple biological processes and disease conditions. The use of gene knockout mouse models, such as in DILI and neurodevelopmental disorder studies, has revealed its specific functions in these areas, providing insights into the underlying mechanisms of diseases related to Ddx3x.