PRPF18

Chr 10

pre-mRNA processing factor 18

Also known as: PRP18, hPrp18

NCBI Gene: 8559 ENSG00000165630 UniProt: Q99633

The protein is essential for the second catalytic step of pre-mRNA splicing and contains seven WD repeats that mediate protein-protein interactions within the spliceosome. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.814), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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