Pre-mRNA processing factor 8 (PRPF8)

Pre-mRNA processing factor 8 (PRPF8) is a **central and evolutionarily conserved core component of the spliceosome**, essential for the catalysis of pre-mRNA splicing in eukaryotes[1][2][3]. PRPF8 orchestrates the assembly, structural arrangement, and proper function of U2- and U12-dependent spliceosomes by serving as a molecular scaffold that mediates protein-protein and protein-RNA interactions[2][3]. Structurally, it contains WD repeat motifs involved in interactions and domains (e.g., Jab1/MPN and RNase H–like) that regulate catalytic activation and splice site selection, especially through interaction with the DEAD-box helicase Brr2[1][4]. PRPF8 is required for the quality control of U5 snRNP assembly, alternative splicing regulation, and the fidelity of intron removal—a critical determinant of tissue-specific gene expression[1][4]. Mutations in PRPF8, particularly in its C-terminal domain, are a leading cause of autosomal dominant **retinitis pigmentosa** and other retinal/ciliary disorders, with tissue vulnerability linked to high splicing demand in retinal cells[1][2][4]. There are currently no known direct drugs targeting PRPF8, as it is an essential and ubiquitously required component, and therapeutic targeting presents challenges due to risk of systemic transcriptome disruption[1][4].

Other names

HPRP8PRPC8SNRNP220RP13PRP8Pre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologp220