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Article

Gene of the month: PRPF31.

Journal of clinical pathology - 1 Sept 2017

Rose Anna M, Luo Rong, Radia Utsav K, Bhattacharya Shomi S

Abstract excerpt

Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment....

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Source

Identifiers

PMID: 28663330
DOI: 10.1136/jclinpath-2016-203971

Genes

PRPF31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene of the month: PRPF31.PMID 28663330Read ↗

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Semantic proximity Read ↗

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Semantic proximity Read ↗

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.Semantic proximity Read ↗

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).Semantic proximity Read ↗

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.Semantic proximity Read ↗

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

PRPF31 alternative splicing and expression in human retina.Semantic proximity Read ↗

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.Semantic proximity Read ↗

Gene symbol: PRPF31.Semantic proximity Read ↗

Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.Semantic proximity Read ↗

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