Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
top of page
BRIEF DESCRIPTION
Mutations in the pre-mRNA processing factor 3 (PRPF3) gene are associated with autosomal dominant retinitis pigmentosa (adRP), a hereditary retinal disease that causes progressive vision loss and eventually blindness.
Pre-mRNA processing factor. Mutations in PRPF3 cause mis-splicing of genes involved in retina-specific functions. Mutations in PRPF3 are linked to 15–20% of adRP cases.
IN THE NEWS
bottom of page