PRPF6

Chr 20AD

pre-mRNA processing factor 6

Also known as: ANT-1, ANT1, C20orf14, Prp6, RP60, SNRNP102, TOM, U5-102K

NCBI Gene: 24148 ENSG00000101161 UniProt: O94906 OMIM: 613979

PRPF6 encodes a protein that functions as a component of the U4/U6-U5 tri-snRNP complex in the spliceosome, essential for pre-mRNA splicing, and also enhances steroid hormone receptor transactivation. Mutations cause autosomal dominant retinitis pigmentosa 60, a form of inherited retinal degeneration. The gene is highly constrained against loss-of-function variants (LOEUF 0.44), reflecting its essential role in RNA processing.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 60MIM #613983

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.44

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — PRPF6