Welcome to CKB CORE's new home! Please be sure to update any bookmarks you may have.
×

Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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).
Additional content available in CKB BOOST