Entrez gene ID | | 144165 |
Official gene symbol | | PRICKLE1 |
Full name | | prickle homolog 1 (Drosophila) |
Aliases | | ,EPM1B,FLJ31627,FLJ31937,MGC138902,MGC138903,RILP, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q12 |
Gene position | | 42983572 - 42852140 Map Viewer |
Gene orientation | | minus |
Gene size | | 131433 bp |
Gene sequence |
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OMIM ID | | 608500 |