PRPF6
PRPF6
A gene on chromosome 20q13.33 that encodes protein involved in pre-mRNA splicing, which may be required in the tri-snRNP complex as a bridging factor between U5 and U4/U6 snRNPs in the late step of spliceosome assembly. It enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1.Molecular pathology
Defects in PRPF6 cause retinitis pigmentosa type 60.