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Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.
A330064G03Rik; Activating signal cointegrator 1 complex subunit 3-like 1; ASCC3L1; bad response to refrigeration 2 homolog; BC011390; BRR2; BRR2 homolog; HELIC2; Kiaa0788; RP33; small nuclear ribonucleoprotein 200 (U5); small nuclear ribonucleoprotein 200kDa (U5); small nuclear ribonucleoprotein U5 subunit 200; small nuclear ribonucleoprotein, U5 200kDa subunit; SNRNP200; U5 small nuclear ribonucleoprotein 200 kDa helicase; U5 snRNP-specific 200 kDa protein; U5 snRNP-specific protein, 200 kDa (DEXH RNA helicase family); U5-200KD; U5-200-KD
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