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PRICKLE1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PRICKLE1 gene

The PRICKLE1 gene provides instructions for making a protein that plays a critical role in the development of the nervous system.

Normal Function

The PRICKLE1 gene provides instructions for making a protein called prickle homolog 1. While its exact function is not fully understood, it appears to play an important role in the development of the nervous system. It is likely part of a chemical signaling pathway known as noncanonical Wnt signaling, which helps determine cell polarity and regulates the movement of nerve cells (neurons) during development.

Studies suggest that prickle homolog 1 interacts with the RE1-silencing transcription factor (REST). The REST protein regulates genes in neurons by turning them off (suppressing them). To do this, REST must enter the nucleus and bind to DNA. Researchers believe that prickle homolog 1 controls REST by transporting it out of the nucleus, preventing it from binding to DNA and suppressing gene activity.

Health Conditions Related to Genetic Changes

PRICKLE1-related progressive myoclonus epilepsy with ataxia

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 amino acid in the prickle homolog 1 protein. One known mutation disrupts 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 remains unclear how these mutations lead to the specific movement problems, seizures, and other features of this condition.

Other Names for This Gene

  • EPM1B
  • FLJ31627
  • FLJ31937
  • MGC138902
  • MGC138903
  • PRIC1_HUMAN
  • prickle homolog 1
  • prickle-like 1
  • REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain protein
  • REST/NRSF-interacting LIM domain protein
  • RILP

Frequently Asked Questions

Currently, there is no gene-specific therapy available for PRICKLE1-related progressive myoclonus epilepsy with ataxia. Treatment is primarily symptomatic, focusing on managing seizures with anti-epileptic drugs and addressing ataxia through physical and occupational therapy. Because the condition is progressive, a multidisciplinary approach involving neurologists, geneticists, and rehabilitation specialists is recommended to manage the complex symptoms and support the patient's quality of life.
Early signs often appear in childhood or adolescence and may be subtle. Parents might notice unsteady walking (ataxia), clumsiness, or difficulty with fine motor skills. As the condition progresses, myoclonus (sudden, brief muscle jerks) and seizures become more frequent. Cognitive function may remain intact initially, but some patients experience learning difficulties or behavioral changes, which can sometimes lead to a delay in diagnosis if neurological exams are not thorough.
The PRICKLE1 protein normally helps regulate the movement of the REST protein out of the cell nucleus in neurons. When PRICKLE1 is mutated, REST cannot be properly transported out of the nucleus, leading to the inappropriate suppression of genes essential for neuron development and function. This disruption in gene regulation during critical periods of brain development results in the structural and functional abnormalities that cause seizures, ataxia, and myoclonus.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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