DHX8
Description
The DHX8 (DEAH-box helicase 8) is a protein-coding gene located on chromosome 17.
DHX8, or DEAH-box helicase 8, is a protein encoded by the DHX8 gene in humans. It belongs to the DEAH box polypeptide family, characterized by a conserved DEAH motif. DHX8 acts as an ATP-dependent RNA helicase involved in splicing and the regulation of spliced mRNA release from spliceosomes into the nucleus. Mutations in DHX8 can have significant consequences for biological processes like hematopoiesis and are associated with certain diseases. DHX8 is part of the spliceosome, a protein complex responsible for pre-mRNA splicing. The spliceosome undergoes eight major functional states, five of which have been structurally characterized. DHX8 contains several domains: an S1 RNA binding domain (DEAD/DEAH box), an helicase conserved C-terminal domain, a helicase associated domain (HA2), and an oligonucleotide/oligosaccharide-binding (OB)-fold, connected by intrinsically disordered regions. The R620 region, as well as the hook-loop and hook-turn regions, are critical for DHX8's activity.
DHX8 is involved in pre-mRNA splicing as a component of the spliceosome. It facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.
DHX8 is also known as DDX8, Dhr2, HRH1, PRP22, PRPF22.
