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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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