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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.
Gene Name: | RNA Binding Motif Protein 17 |
Synonyms: | RBM17, 45 kDa-splicing factor, RNA binding motif protein 17, RNA-binding motif protein 17, Splicing factor 45kDa, SPF45, Splicing factor 45 |
Target Sequences: | NM_032905 NP_116294.1 Q96I25 |
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