ATP-dependent RNA helicase DHX30 (DHX30)

ATP-dependent RNA helicase DHX30 is a member of the DExH-box family of RNA helicases, enzymes that use ATP hydrolysis to unwind RNA secondary structures[3][2]. It is involved in multiple aspects of RNA metabolism, including translation initiation, nuclear and mitochondrial splicing, ribosome and spliceosome assembly, and the regulation of RNA-protein complexes (RNPs)[2][3][1]. DHX30 modulates translation in neurons and is essential for stress granule formation; dysfunction of this enzyme impairs global protein synthesis and triggers pathological stress responses in cells[1][3]. Mutations in DHX30 have been associated with severe neurodevelopmental disorders, manifesting as global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities[2][3]. In antiviral defense, DHX30 interacts with the zinc-finger antiviral protein to promote the degradation of viral RNAs and can influence viral infectivity, including the response to HIV-1[2]. It also acts as a transcriptional repressor in retinal development[2]. Overall, DHX30 plays critical roles in neuronal development, cellular stress responses, and host antiviral mechanisms[2][1][3].

Other names

DExH-box helicase 30DDX30KIAA0890FLJ11214DEAH box protein 30NEDMIALRETCORretina co-repressor