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PRICKLE1 prickle planar cell polarity protein 1

Also known as: RILP; EPM1B

Summary

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]

Genomic context

Location:
12q12
Sequence:
Chromosome: 12; NC_000012.12 (42458338..42589770, complement)
Total number of exons:
13

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