Synonyms:ENTREZ:144165, EPM1B, HGNC:17019, MIM:608500, NM_001144881, NM_001144882, NM_001144883, NM_153026, NP_001138353, NP_001138354, NP_001138355, NP_694571, PRICKLE1, RILP, XM_011537946, XM_011537947, XM_017018838, XM_017018839, XM_017018840, XP_011536248, XP_011536249, XP_016874327, XP_016874328, XP_016874329, prickle planar cell polarity protein 1
Omim:OMIM:608500
Id:06ef8784-77fe-5754-a918-72cc2057d491
Hgnc:HGNC:17019
Description:prickle planar cell polarity protein 1
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]