Abstract
PRPF3 encodes U4/U6 small nuclear ribonucleoprotein Prp3, a nuclear protein that plays a role in mRNA splicing. It is highly expressed in the retina, among many other tissues; mutations affect its interaction with the U4/U6 snRNP complex of the spliceosome [1]. Mutations in PRPF3 cause about one percent of autosomal dominant retinitis pigmentosa (rod-cone dystrophy) [2–6]. It is not well understood how mutations in the components of the spliceosome result in a phenotype that affects only the retina [7].
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References
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Zahid, S. et al. (2018). PRPF3 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_61
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DOI: https://doi.org/10.1007/978-3-319-10867-4_61
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