DDX46
Description
The DDX46 (DEAD-box helicase 46) is a protein-coding gene located on chromosome 5.
DDX46 is a human gene that encodes a member of the DEAD box protein family, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). DEAD box proteins are putative RNA helicases implicated in various cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. DDX46 is a component of the 17S U2 snRNP complex and plays an important role in pre-mRNA splicing. It has been shown to interact with SF3A2.
DDX46 is a component of the 17S U2 SnRNP complex, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex directly participates in early spliceosome assembly and mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, DDX46 plays essential roles during assembly of pre-spliceosome and proofreading of the branch site.
DDX46 is also known as PRPF5, Prp5.
Associated Diseases
- hemoglobin D disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin C-beta-thalassemia syndrome
- dominant beta-thalassemia
- hemoglobin H disease
- delta-beta-thalassemia
- hemoglobin E disease
- hemoglobin E-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- beta-thalassemia-X-linked thrombocytopenia syndrome
- familial isolated congenital asplenia
