PLRG1

Chr 4

pleiotropic regulator 1

Also known as: Cwc1, PRL1, PRP46, PRPF46, TANGO4

NCBI Gene: 5356 ENSG00000171566 UniProt: O43660

The protein is a core component of the CDC5L complex within the spliceosome, functioning in pre-mRNA splicing and alternative splice site selection. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and multiple congenital anomalies, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.

ResearchSummary from RefSeq, UniProt

This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· predicted

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