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Genetics Home Reference: your guide to understanding genetic conditions
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PCNT

Reviewed January 2011

What is the official name of the PCNT gene?

The official name of this gene is “pericentrin.”

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

What is the normal function of the PCNT gene?

The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes, which are part of chromosomes, play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.

Pericentrin acts as an anchoring protein, securing proteins to the centrosome that are necessary for its function. Through its interactions with these proteins, pericentrin is involved in the regulation of the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.

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

microcephalic osteodysplastic primordial dwarfism type II - caused by mutations in the PCNT gene

At least 30 mutations in the PCNT gene have been found to cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII). These mutations result in the production of an abnormally short, nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division. Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.

cancers - associated with the PCNT gene

Gene mutations can be acquired during a person's lifetime and are present only in certain cells. These mutations are called somatic mutations, and they are not inherited. Somatic mutations in the PCNT gene can cause an increase in production of the pericentrin protein. Increased levels of pericentrin have been found in solid tumors (including prostate tumors) as well as cancers of blood-forming cells (leukemia and lymphoma). More pericentrin within the centrosome leads to overactivation of the cell cycle and increased cell division. This abnormal cell growth and division can eventually lead to a cancerous tumor.

other disorders - course of condition modified by normal variations in the PCNT gene

Certain common genetic variations (polymorphisms) in the PCNT gene have been associated with an increased risk of developing psychiatric disorders such as schizophrenia and depression in some individuals. Similarly, increased levels of pericentrin have been found in some individuals with bipolar disorder. It is unclear how changes in the PCNT gene or increased levels of pericentrin protein are related to these disorders. A large number of genetic and environmental factors, most of which remain unknown, likely determine the risk of developing these complex conditions.

Where is the PCNT gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 46,324,069 to 46,445,768

The PCNT gene is located on the long (q) arm of chromosome 21 at position 22.3.

The PCNT gene is located on the long (q) arm of chromosome 21 at position 22.3.

More precisely, the PCNT gene is located from base pair 46,324,069 to base pair 46,445,768 on chromosome 21.

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 PCNT?

You and your healthcare professional may find the following resources about PCNT 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 PCNT gene or gene products?

  • PCN
  • PCNT2
  • PCNTB
  • PCNT_HUMAN
  • pericentrin-2
  • pericentrin B

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 PCNT?

bipolar disorder ; cell ; cell cycle ; cell division ; centrosome ; depression ; dwarfism ; gene ; inherited ; leukemia ; lymphoma ; microcephalic ; microcephaly ; prostate ; protein ; schizophrenia ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Delaval B, Doxsey SJ. Pericentrin in cellular function and disease. J Cell Biol. 2010 Jan 25;188(2):181-90. doi: 10.1083/jcb.200908114. Epub 2009 Dec 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19951897?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5116)
  • OMIM: PERICENTRIN (http://omim.org/entry/605925)
  • Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3. (http://www.ncbi.nlm.nih.gov/pubmed/18174396?dopt=Abstract)
  • Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. (http://www.ncbi.nlm.nih.gov/pubmed/19643772?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2011
Published: December 22, 2014