PRPF8

(redirected from 220 kDa U5 snRNP-specific protein)

PRPF8

A gene on chromosome 17p13.3 that encodes protein which is a central component of the spliceosome and thought to play a role in aligning pre-mRNA 5'- and 3'-exons for ligation. It interacts with U5 snRNP proteins SNRP116 and WDR57/SPF38, and with EFTUD2 and SNRNP200.

Molecular pathology
Defects in PRPF8 cause retinitis pigmentosa type 13.