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PKP2

PKP2

Reviewed May 2010

What is the official name of the PKP2 gene?

The official name of this gene is “plakophilin 2.”

PKP2 is the gene's official symbol. The PKP2 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 PKP2 gene?

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within these cells, plakophilin 2 is one of several proteins that make up structures called desmosomes. These structures form junctions that attach cells to one another. Desmosomes provide strength to the myocardium and are involved in signaling between neighboring cells.

How are changes in the PKP2 gene related to health conditions?

arrhythmogenic right ventricular cardiomyopathy - caused by mutations in the PKP2 gene

More than 50 mutations in the PKP2 gene have been identified in people with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.

Some PKP2 gene mutations lead to the production of an abnormally short version of plakophilin 2. Other mutations alter the structure of plakophilin 2 by adding, deleting, or changing one or more of its protein building blocks (amino acids). Studies suggest that the altered protein impairs the formation and function of desmosomes.

Without normal desmosomes, cells of the myocardium detach from one another and die, particularly when the heart muscle is placed under stress (such as during vigorous exercise). The damaged myocardium is gradually replaced by fat and scar tissue. As this abnormal tissue builds up, the walls of the right ventricle become stretched out, preventing the heart from pumping blood effectively. These changes also disrupt the electrical signals that control the heartbeat, which can lead to arrhythmia.

Where is the PKP2 gene located?

Cytogenetic Location: 12p11

Molecular Location on chromosome 12: base pairs 32,790,745 to 32,896,845

The PKP2 gene is located on the short (p) arm of chromosome 12 at position 11.

The PKP2 gene is located on the short (p) arm of chromosome 12 at position 11.

More precisely, the PKP2 gene is located from base pair 32,790,745 to base pair 32,896,845 on chromosome 12.

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

Where can I find additional information about PKP2?

You and your healthcare professional may find the following resources about PKP2 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 PKP2 gene or gene products?

  • ARVD9
  • MGC177501
  • plakophilin-2

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 PKP2?

acids ; arrhythmia ; cardiomyopathy ; gene ; intermediate filaments ; myocardium ; protein ; stress ; tissue ; ventricle

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

See also Understanding Medical Terminology.

References (9 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: May 2010
Published: September 29, 2014