Gene: PRICKLE1

Alternate names for this Gene: EPM1B|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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q12

Description of this Gene: prickle planar cell polarity protein 1

Type of Gene: protein-coding

rs1551210 in PRICKLE1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4768412 in PRICKLE1 gene and Graves Disease PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.

rs281865563 in PRICKLE1 gene and Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia PMID 18976727 2008 A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

PMID 21276947 2011 Mutations in prickle orthologs cause seizures in flies, mice, and humans.

rs3213989 in PRICKLE1 gene and Primary biliary cirrhosis PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.