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The official name of this gene is “prickle homolog 1.”
PRICKLE1 is the gene's official symbol. The PRICKLE1 gene is also known by other names, listed below.
The PRICKLE1 gene provides instructions for making a protein called prickle homolog 1. The function of this protein is unclear, although it appears to play an important role in the development of the nervous system. Prickle homolog 1 is likely part of a chemical signaling pathway known as noncanonical WNT signaling. During development before birth, noncanonical WNT signaling helps to determine the position of various components within cells (cell polarity). This pathway also regulates the movement of nerve cells (neurons) in the developing nervous system.
Studies suggest that prickle homolog 1 interacts with other proteins, including RE1-silencing transcription factor (REST). The REST protein regulates several critical genes in neurons by turning off (suppressing) their activity. To regulate these genes, REST must enter the nucleus and attach (bind) to particular regions of DNA. Researchers believe that prickle homolog 1 controls REST by transporting it out of the nucleus, which prevents it from binding to DNA and suppressing gene activity. It remains unclear how the interaction between prickle homolog 1 and REST contributes to the normal development of the nervous system.
At least three mutations in the PRICKLE1 gene have been identified in people with PRICKLE1-related progressive myoclonus epilepsy with ataxia. Each mutation changes a single protein building block (amino acid) in the prickle homolog 1 protein. One of the known mutations appears to disrupt the interaction between prickle homolog 1 and REST, blocking the transport of REST out of the nucleus. As a result, REST may inappropriately suppress certain genes in the developing nervous system. It is unclear how mutations in the PRICKLE1 gene lead to movement problems, seizures, and the other features of PRICKLE1-related progressive myoclonus epilepsy with ataxia.
Cytogenetic Location: 12q12
Molecular Location on chromosome 12: base pairs 42,458,338 to 42,589,770
The PRICKLE1 gene is located on the long (q) arm of chromosome 12 at position 12.
More precisely, the PRICKLE1 gene is located from base pair 42,458,338 to base pair 42,589,770 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PRICKLE1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; ataxia ; cell ; DNA ; domain ; epilepsy ; gene ; mutation ; myoclonus ; myoclonus epilepsy ; nervous system ; neuron ; nucleus ; protein ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.