Retinitis pigmentosa 9 pre-mRNA splicing factor (RP9)

Retinitis pigmentosa 9 pre-mRNA splicing factor (RP9) is a ubiquitously expressed RNA splicing factor involved in the removal of introns from nuclear pre-mRNAs as part of the spliceosome complex[1][4]. Though its exact role is not fully defined, RP9 is thought to localize in nuclear speckles containing the splicing factor SRSF2 and interacts directly with U2AF35, impacting assembly/disassembly of the U4/U6-U5 tri-snRNP[1][2]. Mutations in RP9 cause autosomal dominant retinitis pigmentosa, a progressive neurodegenerative disease of the retina that affects both rod and cone photoreceptor function, manifesting as early-onset and severe vision loss[2][3][4]. RP9 is not considered a direct therapeutic target (such as a receptor, enzyme, or transporter), but rather a splicing factor whose dysfunction leads to disease via impaired mRNA processing for critical retinal genes[2][3]. No interacting drugs, mechanism of action for drugs, diagnostic biomarkers, or therapeutic safety concerns were identified in the current literature.

Other names

Retinitis pigmentosa 9 proteinPAP-1Pim-1-associated proteinPim-1 kinase associated protein