PRPF3 polyclonal antibody

PRPF3 (PRP3 pre-mRNA processing factor 3 homolog), also known as RP18, PRP3, Prp3p, HPRP3 or HPRP3P, is an evolutionarily conserved protein involved in pre-mRNA splicing and functions as a component of the U4/U6.U5 tri-snRNP (small nuclear ribonucleoprotein) complex. Ubiquitously expressed with predominant expression in retina, blood, kidney and liver, PRPF3 localizes to nuclear speckles and is phosphorylated in vitro. PRPF3 directly interacts with PRPF4 and is present in the inactive spliceosome but is not found in the catalytically active spliceosome. Mutations in the gene encoding PRPF3 result in autosomal dominant retinitis pigmentosa type 18 (RP18), which leads to photoreceptor cell degeneration. RP18 patients initially exhibit a loss of their midperipheral visual field as well as night vision blindness. The disease eventually progresses to the loss of far peripheral visual field and finally the loss of central vision. This suggests that PRPF3 is a key player in the pre-mRNA splicing of photoreceptor-specific genes.