Aliases for RBM17 Gene
External Ids for RBM17 Gene
Previous GeneCards Identifiers for RBM17 Gene
This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]
GeneCards Summary for RBM17 Gene
RBM17 (RNA Binding Motif Protein 17) is a Protein Coding gene. Diseases associated with RBM17 include Spinocerebellar Ataxia 1 and Dentatorubral-Pallidoluysian Atrophy. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding.
UniProtKB/Swiss-Prot Summary for RBM17 Gene
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.