PRICKLE1

Chr 12AR

prickle planar cell polarity protein 1

Also known as: EPM1B, RILP

NCBI Gene: 144165 ENSG00000139174 UniProt: Q96MT3 OMIM: 608500

The protein functions as a nuclear receptor involved in planar cell polarity signaling that controls neural tube closure and convergent extension during development, and is necessary for nuclear localization of the transcription repressor REST. Biallelic mutations cause progressive myoclonic epilepsy 1B with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.13), indicating that heterozygous loss-of-function variants are likely benign.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epilepsy, progressive myoclonic 1BMIM #612437

UniProtNeural tube defects

Clinical highlights

Gene-disease validity (ClinGen)

epilepsy · ADDisputedevidence questions this relationship2 gene-disease associations curated in total

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)

—

P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — PRICKLE1