RBM17 tissues
RBM17 [ENSP00000388638]
Splicing factor 45; Splice factor that binds to the single-stranded 3'AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia.
Synonyms: RBM17, RBM17p, hRBM17, H0Y6J6, Q5W009 ...