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.
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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about VCP?
You and your healthcare professional may find the following resources about VCP helpful.
Educational resources - Information pages
- Eurekah Bioscience Collection: Assembly of Protein Aggregates in Neurodegeneration: Mechanisms Linking the Ubiquitin/Proteasome Pathway and Chaperones (http://www.ncbi.nlm.nih.gov/books/NBK6166/)
- The Cell: A Molecular Approach (second edition, 2000): Protein Degradation (http://www.ncbi.nlm.nih.gov/books/NBK9957/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1476)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for VCP (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7415%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/601023)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/VCPID42786ch9p13.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7415)
- HGNC Gene Family: ATPases / AAA-type (http://www.genenames.org/genefamilies/ATP)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=12666)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7415)
What other names do people use for the VCP gene or gene products?
- 15S Mg(2+)-ATPase p97 subunit
- TER ATPase
- transitional endoplasmic reticulum ATPase
- yeast Cdc48p homolog
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding VCP?
amino acid ;
cell division ;
endoplasmic reticulum ;
inclusion body ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol. 2006 Jun;65(6):571-81. (http://www.ncbi.nlm.nih.gov/pubmed/16783167?dopt=Abstract)
- Guinto JB, Ritson GP, Taylor JP, Forman MS. Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007 Jul;114(1):55-61. Epub 2007 Apr 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17457594?dopt=Abstract)
- Guyant-Maréchal L, Laquerrière A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frébourg T, Hannequin D, Campion D. Valosin-containing protein gene mutations: clinical and neuropathologic features. Neurology. 2006 Aug 22;67(4):644-51. Epub 2006 Jun 21. (http://www.ncbi.nlm.nih.gov/pubmed/16790606?dopt=Abstract)
- Ju JS, Miller SE, Hanson PI, Weihl CC. Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease. J Biol Chem. 2008 Oct 31;283(44):30289-99. doi: 10.1074/jbc.M805517200. Epub 2008 Aug 20. (http://www.ncbi.nlm.nih.gov/pubmed/18715868?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7415)
- Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2007 Feb;66(2):152-7. (http://www.ncbi.nlm.nih.gov/pubmed/17279000?dopt=Abstract)
- Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005 Mar;57(3):457-61. (http://www.ncbi.nlm.nih.gov/pubmed/15732117?dopt=Abstract)
- Song C, Wang Q, Li CC. Characterization of the aggregation-prevention activity of p97/valosin-containing protein. Biochemistry. 2007 Dec 25;46(51):14889-98. Epub 2007 Nov 29. (http://www.ncbi.nlm.nih.gov/pubmed/18044963?dopt=Abstract)
- Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet. 2007 Nov;72(5):420-6. (http://www.ncbi.nlm.nih.gov/pubmed/17935506?dopt=Abstract)
- Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21. (http://www.ncbi.nlm.nih.gov/pubmed/15034582?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.