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

PRKRA gene

The PRKRA gene provides instructions for making the PACT protein, which regulates cellular stress responses and is essential for synaptic plasticity in the brain.

Normal Function

The PRKRA gene provides instructions for making a protein called PACT. This protein plays a role in the cell's response to stress, such as exposure to viruses, free radicals, or other toxic substances. When a cell is under stress, PACT activates another protein called PKR, which then inactivates the eIF2 alpha (eIF2α) protein. Inactivation of eIF2α lowers protein production, helping to protect cells from damage. If stress remains, the signals triggered by PACT can lead to apoptosis (programmed cell death).

The signals sent by PACT are also important for synaptic plasticity, the ability of connections between brain cells (synapses) to adapt over time. This process is critical for learning and memory.

Health Conditions Related to Genetic Changes

Dystonia 16

At least eight mutations in the PRKRA gene have been identified in people with dystonia 16. This condition is characterized by involuntary movements, muscle twisting (torsion), and unusual positioning of body parts.

  • Mechanism: Most mutations change single amino acids in the PACT protein, altering the timing of stress-response signals.
  • Cellular Impact: This abnormal signaling increases the rate of cell death.
  • Consequence: The excessive loss of cells in specific brain regions impairs the brain's ability to control muscles and movement, resulting in the features of dystonia 16.

Other Names for This Gene

  • DYT16
  • PACT
  • PRKRA gene
  • protein activator of the interferon-induced protein kinase

Frequently Asked Questions

PRKRA mutations are inherited in an autosomal dominant pattern, meaning a 50 % chance of passing the variant to offspring. Family members can undergo targeted genetic testing to determine carrier status. If a mutation is found, early monitoring for movement symptoms is advised.===
definitive diagnosis requires DNA sequencing of the PRKRA gene from a blood or saliva sample. The test looks for known pathogenic variants, such as single‑amino‑acid changes that disrupt PACT function. Genetic counseling is recommended before and after testing.
Management focuses on symptom control: oral anticholinergics, muscle relaxants, or botulinum toxin injections can reduce involuntary movements. Physical therapy and occupational therapy help maintain mobility. In severe cases, deep brain stimulation may be considered. Regular follow‑up with a movement‑disorder specialist is essential.
Patients with PRKRA mutations often notice involuntary muscle contractions, twisting movements, or abnormal postures that worsen with stress or fatigue. These symptoms may start in a limb or face and can spread to other body parts over time. Early recognition of such patterns can prompt genetic evaluation.
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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