SNRNP200, Official Symbol SNRNP200provided by HGNC Official Full Name small nuclear ribonucleoprotein U5 subunit 200provided by HGNC Primary source HGNC:HGNC:30859 See related Ensembl:ENSG00000144028 MIM:601664; AllianceGenome:HGNC:30859 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BRR2; RP33; HELIC2; ASCC3L1; U5-200KD Summary 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. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in testis (RPKM 33.5), ovary (RPKM 29.9) and 25 other tissues See more Orthologs mouse all