PRPF31 polyclonal antibody

PRPF31 (PRP31 pre-mRNA processing factor 31 homolog), also known as RP11, PRP31 or NY-BR-99, is a ubiquitously expressed protein that localizes to the nucleus and is found in Cajal bodies and speckles. PRPF31 is involved in pre-mRNA splicing and functions as a component of the U4/U6.U5 tri-snRNP (small nuclear ribonucleoprotein) complex. More specifically, PRPF31 is believed to mediate the tethering of the tri-snRNP to the spliceosome (a large ribonucleoprotien responsible for catalyzing the splicing of pre-mRNA), thereby assisting in the assembly of the mature spliceosome. Mutations in the gene encoding PRPF31 result in autosomal dominant retinitis pigmentosa type 11 (RP11), which leads to photoreceptor cell degeneration. RP11 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 PRPF31 is a key player in the pre-mRNA splicing of photoreceptor-specific genes.