Aliases for DHX30 Gene
External Ids for DHX30 Gene
Previous HGNC Symbols for DHX30 Gene
Previous GeneCards Identifiers for DHX30 Gene
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
GeneCards Summary for DHX30 Gene
DHX30 (DExH-Box Helicase 30) is a Protein Coding gene. Diseases associated with DHX30 include Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language and Oculomotor Apraxia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and chromatin binding. An important paralog of this gene is DHX57.
UniProtKB/Swiss-Prot Summary for DHX30 Gene
RNA-dependent helicase (PubMed:29100085). Plays an important role in the assembly of the mitochondrial large ribosomal subunit (PubMed:25683715, PubMed:29100085). Required for optimal function of the zinc-finger antiviral protein ZC3HAV1 (By similarity). Associates with mitochondrial DNA (PubMed:18063578). Involved in nervous system development and differentiation through its involvement in the up-regulation of a number of genes which are required for neurogenesis, including GSC, NCAM1, neurogenin, and NEUROD (By similarity).