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Gene Symbol PRPF8
Synonyms HPRP8 | PRP8 | PRPC8 | RP13 | SNRNP220
Gene Description PRPF8, pre-mRNA processing factor 8, encodes an essential component of the U5 small nuclear ribonucleoprotein particle that forms a catalytic center in the spliceosome allowing the inclusion of two key proteins, Eftud2 and Snrnp200, which are required for splicing (PMID: 28515276, PMID: 15840809). PRPF8 mutations have been associated with myeloid malignancies (PMID: 22323480, PMID: 24781015).
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