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VRK1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

VRK1 gene

The VRK1 gene provides instructions for making a protein that regulates cell growth, division, and nuclear structure, with mutations linked to rare neurological disorders.

Normal Function

The VRK1 gene provides instructions for making a protein called VRK serine/threonine kinase 1, which is active in cells throughout the body. This protein plays a critical role in directing cell growth and division by regulating transcription factors, most notably p53. By stabilizing and activating p53, the protein helps repair damaged DNA and prevents the formation of cancerous tumors.

Additional functions of VRK serine/threonine kinase 1 include:

  • Assisting in the assembly of the nuclear envelope.
  • Organizing chromatin, the complex of DNA and protein that packages DNA into chromosomes.
  • Supporting the development and maintenance of the nervous system.

Health Conditions Related to Genetic Changes

Pontocerebellar hypoplasia

Mutations in the VRK1 gene can cause pontocerebellar hypoplasia type 1 (PCH1), specifically PCH1A. These mutations significantly reduce the amount of VRK serine/threonine kinase 1 produced, which impairs cell growth and division, though the exact mechanism leading to abnormal brain development is unknown.

Other disorders

Mutations in the VRK1 gene are also associated with a form of hereditary motor and sensory neuropathy (HMSN). Individuals with this condition may experience:

  • Weak muscle tone (hypotonia).
  • Delayed development of motor skills.
  • An unusually small head size (microcephaly).

Other Names for This Gene

  • MGC117401
  • MGC138280
  • MGC142070
  • vaccinia related kinase 1
  • vaccinia virus B1R-related kinase 1
  • vaccinia-related kinase-1
  • VRK1_HUMAN

Genomic Location

The VRK1 gene is found on chromosome 14.

Frequently Asked Questions

The VRK1 protein is essential for regulating cell growth and division, particularly by stabilizing the p53 protein which helps repair DNA. When mutations significantly reduce the amount of functional VRK1 protein, cells in the developing brain cannot divide and organize correctly. This disruption specifically affects the pons and cerebellum, leading to pontocerebellar hypoplasia, where these areas are underdeveloped, resulting in severe neurological impairments and movement difficulties.
PCH1A is a specific subtype of pontocerebellar hypoplasia caused by mutations in the VRK1 gene. It is characterized by a specific pattern of brain underdevelopment affecting the pons and cerebellum, often accompanied by a small head size (microcephaly) and low muscle tone. Other forms of PCH, such as PCH2 or PCH4, are caused by mutations in different genes (like TSEN54 or RNU4) and may present with slightly different clinical features or progression rates, making genetic testing critical for accurate classification and prognosis.
Yes, if a family history or genetic testing of parents identifies a risk for VRK1 mutations, prenatal diagnosis is possible. This can be achieved through chorionic villus sampling (CVS) or amniocentesis to analyze the fetal DNA for known familial mutations. Additionally, detailed fetal ultrasound or MRI may show signs of brain structural abnormalities, such as a small cerebellum, though genetic confirmation is required for a definitive diagnosis.
Children with VRK1-related hereditary motor and sensory neuropathy typically experience delayed motor milestones, such as sitting, crawling, and walking, and may have persistent low muscle tone. The condition is generally progressive, meaning symptoms may worsen over time, affecting balance and coordination. While there is no cure, early intervention with physical and occupational therapy can help maximize functional abilities and manage complications, and ongoing neurological monitoring is essential to track progression.
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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