Aliases for DDX46 Gene
External Ids for DDX46 Gene
Previous GeneCards Identifiers for DDX46 Gene
This gene encodes a member of the DEAD box protein family. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for DDX46 Gene
DDX46 (DEAD-Box Helicase 46) is a Protein Coding gene. Diseases associated with DDX46 include Myopathy, Centronuclear, 1 and Mitochondrial Dna Depletion Syndrome 9. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and ATP-dependent RNA helicase activity. An important paralog of this gene is DDX23.
UniProtKB/Swiss-Prot Summary for DDX46 Gene
Plays an essential role in splicing, either prior to, or during splicing A complex formation.