PRPF4
Function
Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).
Involvement in disease
Retinitis pigmentosa 70
RP70
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Nucleus speckle
Alternative names
PRP4, PRPF4, U4/U6 small nuclear ribonucleoprotein Prp4, PRP4 homolog, U4/U6 snRNP 60 kDa protein, WD splicing factor Prp4, hPrp4