Meyahealth
Home
ENES
HomeGeneticsGenePCNT gene
Back to Gene
PCNT gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PCNT gene

The PCNT gene provides instructions for making the protein pericentrin, which is essential for cell division and the structural integrity of centrosomes.

Normal Function

The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes 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.

Health Conditions Related to Genetic Changes

Microcephalic osteodysplastic primordial dwarfism type II

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.

Prostate cancer

MedlinePlus Genetics provides information about Prostate cancer.

Cancers

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

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.

Other Names for This Gene

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

Frequently Asked Questions

Beyond severe short stature and microcephaly, individuals with MOPDII face significant risks of neurological and metabolic complications. Common issues include intellectual disability, which can range from mild to severe, and developmental delays. There is a heightened risk of metabolic decompensation during periods of stress, such as illness or fasting, which can lead to lactic acidosis. Additionally, patients may experience respiratory difficulties, feeding problems in infancy, and an increased susceptibility to infections due to immune system vulnerabilities.
The PCNT gene is associated with prostate cancer primarily through somatic mutations, which are acquired changes in the DNA of prostate cells during a person's lifetime rather than inherited from parents. These somatic mutations can lead to the overexpression of pericentrin, which may promote cell proliferation and tumor growth. Unlike MOPDII, which is caused by germline (inherited) mutations, the PCNT alterations in prostate cancer are not typically passed down through families and are not considered a primary hereditary cancer syndrome.
Diagnosis typically begins with clinical evaluation noting severe growth restriction, microcephaly, and skeletal abnormalities. Definitive diagnosis requires genetic testing, specifically sequencing of the PCNT gene to identify pathogenic variants. Since over 30 mutations are known to cause MOPDII, comprehensive sequencing is preferred over targeted mutation analysis to ensure all potential variants are detected. Clinicians may also use chromosomal microarray to rule out other genetic causes of growth failure if the PCNT test is negative.
MOPDII is an autosomal recessive condition, meaning an individual must inherit two mutated copies of the PCNT gene, one from each parent, to develop the disorder. Parents are typically asymptomatic carriers. If a couple has one child with MOPDII, there is a 25% chance with each subsequent pregnancy that the child will also be affected, a 50% chance the child will be a carrier, and a 25% chance the child will not have the condition or be a carrier. Genetic counseling and carrier testing for relatives are recommended for family planning decisions.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ