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@jax.org

Gene Symbol SF3B1
Synonyms Hsh155 | MDS | PRP10 | PRPF10 | SAP155 | SF3b155
Gene Description SF3B1, splicing factor 3b, subunit 1, is a core member of the U2 small nuclear ribonucleoprotein complex of the spliceosome which mediates the splicing of genes involved in myelodysplastic syndrome (MDS) pathogenesis (PMID: 25510282, PMID: 26842708). Mutations in SF3B1 are frequent in MDS and have also been identified in chronic lymphocytic leukemia, melanoma, and breast cancer (PMID: 24709888, PMID: 25510282, PMID: 26842708, PMID: 32112088, PMID: 32303702, PMID: 32905346).


Additional content available in CKB BOOST