PRPF

PRPF stands for pre-mRNA processing factor, a family of proteins that are components of the spliceosome, the cellular machinery responsible for removing introns from pre-mRNA during gene expression. In eukaryotes, multiple PRPF proteins participate in the assembly and function of the U4/U6.U5 tri-snRNP and other spliceosomal subcomplexes, enabling correct recognition of splice sites and catalysis of the splicing reaction. The PRPF family is evolutionarily conserved, reflecting a fundamental role in RNA processing.

In humans, several PRPF genes encode individual components of the spliceosome, including PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, and the paralogs PRPF38A and PRPF38B. These proteins vary in size and domain structure, but commonly participate in protein–protein interactions within the spliceosome and contribute to the assembly, stability, and catalytic steps of pre-mRNA splicing. The exact molecular roles of each PRPF member are studied in model systems and human cells, where they help ensure proper intron removal and splice site choice.

Clinical and research significance: Mutations in several PRPF genes are linked to inherited retinal diseases, most notably autosomal dominant retinitis pigmentosa associated with PRPF31. Such conditions underscore the sensitivity of retinal cells to splicing defects. Beyond disease, PRPF proteins are studied to understand spliceosome dynamics, splicing fidelity, and the consequences of disrupted RNA processing in human biology.

In summary, PRPF denotes a group of pre-mRNA processing factors integral to spliceosome function, with both fundamental cellular roles and links to inherited diseases.