Aliases for PRICKLE1 Gene
External Ids for PRICKLE1 Gene
Previous GeneCards Identifiers for PRICKLE1 Gene
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]
GeneCards Summary for PRICKLE1 Gene
PRICKLE1 (Prickle Planar Cell Polarity Protein 1) is a Protein Coding gene. Diseases associated with PRICKLE1 include Epilepsy, Progressive Myoclonic, 1B and Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia. Among its related pathways are Signaling by Wnt and CDK-mediated phosphorylation and removal of Cdc6. An important paralog of this gene is PRICKLE2.
UniProtKB/Swiss-Prot for PRICKLE1 Gene
Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor.