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VCP

VCP

Reviewed December 2008

What is the official name of the VCP gene?

The official name of this gene is “valosin containing protein.”

VCP is the gene's official symbol. The VCP gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the VCP gene?

The VCP gene provides instructions for making an enzyme called valosin-containing protein. This enzyme is found throughout the body and has a wide variety of functions within cells. It is involved in cell division, fusing membranes within cells, reassembling cell structures after cells have divided, preventing the self-destruction of cells (apoptosis), and repairing damaged DNA.

Valosin-containing protein is part of the ubiquitin-proteasome system, which is the machinery that breaks down (degrades) unneeded proteins within cells. This system provides quality control by disposing of damaged, misshapen, and excess proteins. It also regulates the level of proteins involved in several critical cell activities, such as the timing of cell division and growth. Researchers believe that most of the functions of valosin-containing protein are directly or indirectly related to the ubiquitin-proteasome system.

How are changes in the VCP gene related to health conditions?

inclusion body myopathy with early-onset Paget disease and frontotemporal dementia - caused by mutations in the VCP gene

At least 10 mutations in the VCP gene have been identified in people who have inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). These mutations each change a single protein building block (amino acid) in valosin-containing protein. Changes in the structure of this enzyme disrupt its ability to break down other proteins as part of the ubiquitin-proteasome system. As a result, excess and abnormal proteins may build up in muscle, bone, and brain cells. The proteins form clumps (aggregates) that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.

Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is also associated with changes in the VCP gene.

Where is the VCP gene located?

Cytogenetic Location: 9p13.3

Molecular Location on chromosome 9: base pairs 35,056,067 to 35,072,741

The VCP gene is located on the short (p) arm of chromosome 9 at position 13.3.

The VCP gene is located on the short (p) arm of chromosome 9 at position 13.3.

More precisely, the VCP gene is located from base pair 35,056,067 to base pair 35,072,741 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about VCP?

You and your healthcare professional may find the following resources about VCP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the VCP gene or gene products?

  • IBMPFD
  • 15S Mg(2+)-ATPase p97 subunit
  • MGC131997
  • MGC148092
  • MGC8560
  • p97
  • TERA
  • TERA_HUMAN
  • TER ATPase
  • transitional endoplasmic reticulum ATPase
  • yeast Cdc48p homolog

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding VCP?

amino acid ; apoptosis ; cell ; cell division ; chaperone ; degradation ; dementia ; DNA ; endoplasmic reticulum ; enzyme ; gene ; inclusion body ; proteasome ; protein ; sclerosis ; subunit ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

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? in the Handbook.

 
Reviewed: December 2008
Published: October 20, 2014