Gene Symbol | PRICKLE1 |
Entrez Gene ID | 144165 |
Full Name | prickle planar cell polarity protein 1 |
Synonyms | EPM1B,RILP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Epilepsy, progressive myoclonic 1B, 612437 (3) |