Pre-mRNA processing factor 3 (PRPF3)

Pre-mRNA processing factor 3 (PRPF3) is a core component of the spliceosome complex, specifically associated with the U4/U6 small nuclear ribonucleoproteins (snRNPs)[1][5]. PRPF3 is essential for catalyzing the removal of introns from nuclear pre-mRNAs, playing a vital role in the assembly and stability of the U4/U6.U5 tri-snRNP complex during mRNA maturation[1]. It binds directly to U6 snRNA and interacts with splicing factors such as PRPF4 and PRPF6[1]. Although PRPF3 is ubiquitously expressed in the nucleus of most cells, heterozygous missense mutations in the PRPF3 gene are specifically linked to autosomal dominant retinitis pigmentosa (RP18), likely through a toxic gain-of-function mechanism that causes protein aggregation and apoptosis in photoreceptor cells[2][3]. PRPF3 is not considered a traditional drug target (e.g., receptor, enzyme); there are no known therapies or drugs acting directly on this protein. Key references: - PRPF3 is necessary for proper spliceosome assembly and pre-mRNA splicing[1][3] - Pathogenic mutations cause dominant retinal degeneration, usually via a toxic gain-of-function and not haploinsufficiency[2][3] - PRPF3 is not a classic therapeutic target and has no current pharmacological modulators or known drug-interactions[1][3][5]

Other names

U4/U6 small nuclear ribonucleoprotein Prp3HPRP3HPRP3PPRP3Prp3pRP18SNRNP90Pre-mRNA-splicing factor 3U4/U6 snRNP 90 kDa proteinU4/U6-associated RNA splicing factor