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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?
Where is the PKP2 gene located?
Cytogenetic Location: 12p11
Molecular Location on chromosome 12: base pairs 32,790,746 to 32,896,846
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 32,790,746 to base pair 32,896,846 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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.