RBM17
Description
The RBM17 (RNA binding motif protein 17) is a protein-coding gene located on chromosome 10.
RBM17 is a gene that encodes for Splicing factor 45, a protein involved in splicing.
RBM17 is a splicing factor that recognizes and binds to the single-stranded 3'AG sequence at the exon/intron boundary. It plays a key role in the second step of splicing by promoting the use of this sequence. RBM17 also regulates alternative splicing and the use of cryptic splice sites. In the case of the beta-110 mutation in the HBB gene, RBM17 promotes the use of a cryptic splice site, leading to a frameshift and ultimately sickle cell anemia.
RBM17 is also known as SPF45.
