DDX23
Description
The DDX23 (DEAD-box helicase 23) is a protein-coding gene located on chromosome 12.
DDX23, a human gene, encodes a member of the DEAD box protein family, which are known as putative RNA helicases involved in diverse cellular processes including translation initiation, splicing, and ribosome assembly. DDX23 is a component of the U5 snRNP complex and likely facilitates conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant of this gene has been identified, but its function remains unclear.
DDX23 plays a crucial role in pre-mRNA splicing, particularly in the formation of the spliceosomal B complex, where its phosphorylated form by SRPK2 is required. Importantly, DDX23 also has a function independent of spliceosome formation. It is involved in suppressing the formation of incorrect R-loops, structures composed of DNA:RNA hybrids and single-stranded DNA, which can occur during transcription.
DDX23 is also known as PRPF28, SNRNP100, U5-100K, U5-100KD, prp28.
Associated Diseases
- global developmental delay with speech and behavioral abnormalities
- bilateral perisylvian polymicrogyria
- IMAGe syndrome
- transient myeloproliferative syndrome
- neutrophil immunodeficiency syndrome
- neutropenia, severe congenital, 2, autosomal dominant
