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• Comment: In accordance with the Wikimedia Foundation's Terms of Use, I disclose that I have been paid by my employer for my contributions to this article. Purpleptaters (talk) 21:19, 7 May 2026 (UTC)

The gene DHX30 encodes the ATP-dependent RNA helicase DHX30 (DExH-Box Helicase 30), a type of RNA helicase enzyme. DHX30 is one of many RNA helicases in the DExH superfamily, which unwind double-stranded sections of RNA or RNA/DNA hybrids and restructure RNA/protein complexes^[1][2][3][4]. Disease-causing (pathogenic) mutations in the DHX30 gene cause DHX30 syndrome, which can include symptoms such as global developmental delay, intellectual disability, severe speech impairment, gait abnormalities, low muscle tone, autistic features, and seizures^[1][5].

There are 6 known superfamilies of RNA helicases. DHX30 belongs to superfamily 2, which is characterized by a DExH or DExD signature in the ATP-binding motif II, and contains >50 human gene members. These RNA helicases bind and hydrolyze ATP, and their main function is to bind and unwind nucleic acids^[2][5].  

Expression of DHX30 is ubiquitous^[6], and found in the brain from early embryonic stages through at least 6 years of age^[2]. Like other DExH helicases, DHX30 enzyme is a processive helicase, which unwinds double-stranded RNA as it moves^[1][3]. The DHX30 gene has two promoters, and the alternatively spliced isoform contains a predicted mitochondrial targeting sequence^[7]. DHX30 is localized to and active in both the cytosol and mitochondria^[8][7] and thought to link mitochondrial function, ribosome biogenesis, and global translation^[7]. DHX30 functions within stress granules, which are large protein/RNA complexes in the cytoplasm where mRNAs are sequestered during translation shutdown events resulting from cellular stresses^[2][1][7]. DHX30 protein is also localized to mitochondrial RNA granules, with roles in RNA processing and mitochondrial ribosome biogenesis^[8]. DHX30 is also a mitochondrial G-quadruplex binding protein, and can unfold mitochondrial DNA G-quadruplex structures^[9].

Several different helicases are specifically needed for each gene’s precise expression and RNA metabolism. Neurons appear to have exacting requirements for proteins involved in RNA metabolism, as neurodevelopmental disorders are observed in individuals with pathogenic mutations in many of the genes involved in RNA metabolic processes, including 5 DEAH-box RNA helicases (DHX9, DHX30, DHX37, DHX16, and DHX34) and 7 DEAD-box RNA helicases (DDX3X, DDX6, EIF4A2, DDX23, DDX54, DDX59, and EIF4A3)^[2][4].

DHX30, as with many DEAD/DEAH-box RNA helicases, are intolerant to missense mutation^[4][5]. Heterozygous missense, frameshift, and nonsense DHX30 variants are seen in humans and cause the neurodevelopmental disorder DHX30 syndrome (OMIM*616423), formerly known as NEDMIAL (Neurodevelopmental Disorder characterized with severe Motor Impairment and Absent Language, OMIM* 617804), also known as DHX30-associated neurodevelopmental disorders^[1][2][5]. DHX30’s RNA helicase activity is disrupted by missense variants in its helicase core motifs by impairing either its ATPase activity or RNA binding ability^[2][5]. It appears that stress granules form aberrantly when DHX30 is mutated, reducing global translation^[1][5][7].

Individuals with DHX30 syndrome may have all or some of the following symptoms, with differing severity: global developmental delay, intellectual disability, severe speech impairment, ataxia, hypotonia, differences in brain structure, strabismus, autistic features, and seizures^[1][5].

DHX30 has been shown to interact with pro-apoptotic transcripts in cancer cells, reducing the chance of apoptosis, which suggests a possible role as a future target in cancer therapeutic development^[7].

• FASTKD2^[8]
• FASTKD5^[7]
• MRPL11^[7]
• MPRS22^[7]
• Ribosomal subunit 80s^[10]
• Mitochondrial endonuclease G (EndoG)^[11] (Xu et al., (2025)

• DHX30 syndrome
• Eukaryotic translation
• DExD/H box proteins
• DDX3X
• Neurodevelopmental disorder
• DEAD box
• RNA helicase
• RNA helicase database