Prickle-Like Protein 1 (PRICKLE1) ELISA Kit for Human

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]

PRICKLE1: 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. Defects in PRICKLE1 are the cause of progressive myoclonic epilepsy type 1B (EPM1B). EPM1B is an autosomal recessive disorder characterized by myoclonus that progresses in severity over time, tonic-clonic seizures and ataxia. Defects in PRICKLE1 may be a cause of susceptibility to neural tube defects (NTD). Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Belongs to the prickle / espinas / testin family.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 12q12

Cellular Component: cytosol; nuclear membrane; nucleus

Molecular Function: protein binding; zinc ion binding

Biological Process: negative regulation of canonical Wnt signaling pathway; negative regulation of cardiac muscle cell myoblast differentiation; negative regulation of transcription, DNA-dependent; neural tube closure; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein ubiquitination; protein import into nucleus; Wnt receptor signaling pathway, planar cell polarity pathway

Disease: Epilepsy, Progressive Myoclonic 1b