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

VCP gene

The VCP gene provides instructions for an enzyme that helps cells maintain quality control by breaking down unneeded or damaged proteins.

Normal Function

The VCP gene provides instructions for making an enzyme called valosin-containing protein. This enzyme is found throughout the body and is involved in critical cellular processes, including cell division, membrane fusion, reassembling cell structures, preventing cell self-destruction (apoptosis), and repairing damaged DNA.

This protein is a key component of the ubiquitin-proteasome system, the machinery responsible for breaking down (degrading) unneeded, misshapen, or excess proteins. By disposing of these proteins, the system provides quality control and regulates the timing of cell growth and division.

Health Conditions Related to Genetic Changes

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Variants in the VCP gene are identified in people with inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). This rare disease causes muscle weakness (myopathy), a painful bone condition (Paget disease of bone), and a progressive brain condition (frontotemporal dementia).

  • Mechanism: These variants change a single amino acid in the valosin-containing protein, impairing its ability to break down proteins. Consequently, abnormal proteins build up and form clumps (aggregates) in muscle, bone, and brain cells, interfering with their normal function.

Amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease

Mutations in the VCP gene have also been associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease.

Other Names for This Gene

  • 15S Mg(2+)-ATPase p97 subunit
  • CDC48
  • IBMPFD
  • MGC131997
  • MGC148092
  • MGC8560
  • p97
  • TER ATPase
  • TERA
  • TERA_HUMAN

Frequently Asked Questions

IBMPFD is inherited in an autosomal dominant pattern. This means if one parent has a pathogenic VCP gene variant, each child has a 50% chance of inheriting the variant and developing the condition. Genetic counseling is recommended for affected families.
Early symptoms often include progressive muscle weakness, particularly in the hips and shoulders, leading to difficulty walking or lifting. Bone pain and deformities from Paget disease can also appear, along with subtle changes in personality, behavior, or language that signal frontotemporal dementia.
Diagnosis typically involves a combination of clinical evaluation for muscle weakness, bone issues, and cognitive changes, along with imaging studies like MRI for muscle and brain. Genetic testing to identify pathogenic variants in the VCP gene is crucial for confirmation.
Management is symptomatic and multidisciplinary. Physical therapy and assistive devices can help with muscle weakness. Bisphosphonates are used to manage Paget disease of bone. For frontotemporal dementia, medications may help with behavioral symptoms, and cognitive support is provided. There is currently no cure, but treatments aim to improve quality of life.
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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