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The PKP2 gene, also known as the plakophilin-2 gene, is a protein coding gene that is associated with a variety of cardiomyopathies. These conditions are characterized by changes in the structure and function of the myocardium, the heart’s muscle tissue. Mutations in the PKP2 gene can lead to arrhythmogenic right ventricular cardiomyopathy (ARVC), a familial disease that affects the heart’s rhythm and can result in sudden cardiac death.

In addition to ARVC, the PKP2 gene has been implicated in other cardiac conditions such as dilated cardiomyopathy and other forms of arrhythmogenic cardiomyopathy. The gene encodes for plakophilin-2, a protein that is involved in the formation and maintenance of cell-cell junctions in the heart muscle. Mutations in the PKP2 gene can disrupt these junctions, leading to the development of various cardiac diseases.

Information about the PKP2 gene and its association with cardiomyopathies can be found in various scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding references and articles related to this gene. The Genetic Testing Registry (GTR) provides information about available genetic tests for PKP2 and other genes associated with cardiac diseases.

Clinical testing for mutations in the PKP2 gene can be done to diagnose individuals with suspected ARVC or other cardiomyopathies. Testing may involve sequencing the gene to identify any genetic variants or changes. The results of these tests can provide important insights into an individual’s genetic health and help inform treatment options.

Genetic changes in the PKP2 gene can lead to various health conditions, particularly those affecting the heart. The PKP2 gene provides instructions for producing a protein called plakophilin-2, which is essential for maintaining the normal structure and function of cardiac cells.

One of the main health conditions associated with genetic changes in the PKP2 gene is arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is a rare familial disease characterized by abnormal changes in the structure of the myocardium, the middle layer of the heart’s wall. These changes can disrupt the normal rhythm of the heartbeat, leading to arrhythmias and other cardiac complications.

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Genetic testing can help identify mutations in the PKP2 gene that may be responsible for ARVC and other related conditions. This testing can be done through various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a wealth of information on the genetic changes associated with PKP2 and other genes related to cardiomyopathy and heart diseases.

Furthermore, clinical registries and scientific publications often list additional genes that may be implicated in ARVC and related conditions. One such gene is PLN, which encodes phospholamban, another protein involved in cardiac function. Other genes, such as DES and DSP, may also be associated with similar conditions.

When genetic changes in the PKP2 gene or other related genes are identified, it is important to provide accurate and up-to-date information to individuals and families affected by these conditions. This can be done through patient registries, genetic counseling, and educational resources. It is also crucial to ensure proper clinical testing and interpretation of genetic variants to guide appropriate management and treatment strategies for affected individuals.

In summary, genetic changes in the PKP2 gene can result in various health conditions, particularly those affecting the heart. ARVC and related conditions are characterized by abnormal changes in cardiac structures and rhythm. Genetic testing, combined with information from databases and scientific articles, plays a crucial role in understanding and managing these conditions.

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Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a listed genetic disease characterized by right ventricular dysfunction and arrhythmias. It is also known as arrhythmogenic right ventricular dysplasia and was previously categorized as ARVD. ARVC is a familial condition, meaning it can be inherited from one or both parents.

ARVC is caused by mutations in the PKP2 gene, which encodes the protein plakophilin-2. Plakophilin-2 is an important component of the cardiac desmosome, which helps to maintain the structural integrity of the myocardium. Mutations in the PKP2 gene can lead to changes in the desmosomal structure, disrupting the normal functioning of the heart.

Clinical and scientific research has identified more than 10 genes associated with ARVC. In addition to PKP2, some of these genes include DSP, DSG2, DSC2, JUP, and TMEM43. Variants in these genes can cause similar changes in desmosomal structures and lead to ARVC.

Diagnosis of ARVC involves clinical evaluation, including echocardiography, electrocardiography, and other cardiac tests. Genetic testing can be performed to identify mutations in the PKP2 gene and other genes associated with ARVC. These tests can confirm the diagnosis and help determine the risk of cardiac events.

Additional information on ARVC and the PKP2 gene can be found in various online resources, such as the OMIM and PubMed databases. These databases provide access to scientific articles and references related to ARVC, PKP2, and other genes associated with the condition. The GeneReviews and Orphanet websites also provide information on ARVC and other genetic diseases.

In summary, arrhythmogenic right ventricular cardiomyopathy is a genetic condition characterized by right ventricular dysfunction and arrhythmias. It is caused by mutations in the PKP2 gene and other genes associated with desmosomal proteins. Diagnosis involves clinical evaluation and genetic testing. Online resources such as OMIM, PubMed, GeneReviews, and Orphanet provide valuable information on ARVC and related genetic conditions.

Other Names for This Gene

  • PKP2 gene
  • Plakophilin-2 gene

The PKP2 gene is also known by other names, including:

  • Plakophilin-2
  • PKP2
  • Wahl’s gene

These alternative names are used in scientific and medical resources, such as genetic testing and research articles. The PKP2 gene is often listed under these names in databases and catalogs related to clinical and genetic testing.

Plakophilin-2 is a protein-coding gene that plays a crucial role in the structural integrity of desmosomes, which are cell-cell junctions found in various tissues, including the myocardium. Mutations in the PKP2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and other related cardiac diseases.

For additional information on the PKP2 gene and related conditions, you can refer to the following resources:

  1. The OMIM (Online Mendelian Inheritance in Man) database.
  2. The PubMed database, where you can find scientific articles and research papers.
  3. The registry of the Central Rhythm Database, which contains information about genetic changes and rhythm abnormalities.

These resources can provide you with more details about the PKP2 gene, its role in various diseases, and other related genes and proteins.

Additional Information Resources

For additional information on the PKP2 gene, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the PKP2 gene and its related conditions. OMIM is a comprehensive catalog of genes and genetic conditions, and it can be accessed at www.omim.org.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “PKP2 gene” or related terms on PubMed can provide a wealth of scientific resources and articles related to PKP2. PubMed can be accessed at pubmed.ncbi.nlm.nih.gov.
  • Registry of Genetic and Rare Diseases Information Center: This resource provides information on a wide range of genetic and rare diseases, including arrhythmogenic right ventricular cardiomyopathy. More information can be found at rarediseases.info.nih.gov.
  • Clinical Databases: There are several clinical databases available that can provide information on PKP2 gene variants and related conditions. Some examples include the Human Gene Mutation Database (HGMD) and the ClinVar database. These databases can often be accessed through academic or medical institutions.
  • Articles and References: There are numerous articles and references available on PKP2 gene and its role in arrhythmogenic right ventricular cardiomyopathy. These articles can provide more in-depth information on the gene, its protein structures, and the changes or mutations that can result in diseases affecting the myocardium.
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Tests Listed in the Genetic Testing Registry

The genetic testing registry provides a comprehensive catalog of tests related to the PKP2 gene and other genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and other familial cardiac conditions. These tests can provide valuable information about the genetic changes and variants that may be causing these conditions.

Genetic testing involves analyzing a person’s DNA to look for specific changes or variants in genes that are known to be associated with certain health conditions. In the case of PKP2 and ARVC, genetic testing can help identify changes in the PKP2 gene, which provides instructions for making the plakophilin-2 protein. Changes in this gene can lead to abnormalities in the structure and function of the protein, which can disrupt the normal functioning of cardiac cells and contribute to the development of ARVC.

Tests listed in the genetic testing registry for PKP2 and related genes typically involve sequencing the DNA of an individual to identify any changes or variants. These tests may also include additional analyses to assess the functional impact of the identified changes, such as measuring the expression or stability of the plakophilin-2 protein.

The genetic testing registry provides a centralized resource for finding information about available tests for PKP2 and related genes. This registry includes information on the clinical utility of each test, as well as references to scientific articles and databases that can provide additional information on the genes, variants, and associated conditions.

Some of the resources listed in the genetic testing registry include PubMed, a database of scientific articles, and OMIM, a comprehensive catalog of genetic diseases and associated genes. These resources can provide valuable information on the clinical presentation, inheritance patterns, and management of familial cardiomyopathies and other related conditions.

Overall, the genetic testing registry is a valuable tool for healthcare providers and researchers seeking information on available tests for the PKP2 gene and related genes. By utilizing these tests, healthcare providers can obtain important information to inform the diagnosis, treatment, and management of individuals with arrhythmogenic right ventricular cardiomyopathy and other related cardiac conditions.

Scientific Articles on PubMed

PubMed is a widely used resource for accessing scientific articles on various topics related to health and diseases. It provides a vast collection of articles from different databases and research registries, making it an excellent source for gathering information on specific genetic variants, clinical testing, and other related conditions.

One such gene that has been extensively studied is the PKP2 gene, which codes for the protein plakophilin-2. Plakophilin-2 is an essential component of structures called desmosomes, which are involved in cell-cell adhesion. Mutations in the PKP2 gene have been associated with arrhythmogenic cardiomyopathy, a condition characterized by changes in the rhythm of the heartbeat and structural abnormalities in the ventricular myocardium.

PubMed lists numerous scientific articles on the PKP2 gene and its related variants. These articles provide valuable insights into the genetic basis of arrhythmogenic cardiomyopathy and other familial cardiomyopathies. They also discuss the clinical testing procedures, additional resources for further information, and references to other relevant articles.

Some of the articles listed on PubMed include:

  1. “Mutations in the PKP2 gene and arrhythmogenic cardiomyopathy” – This article explores the role of PKP2 gene mutations in the development of arrhythmogenic cardiomyopathy and discusses the diagnostic tests and clinical management options for affected individuals.
  2. “Genetic testing for PKP2 gene variants in familial cardiomyopathy” – This article focuses on the genetic testing strategies for identifying PKP2 gene variants in individuals with a family history of cardiomyopathy.
  3. “The role of plakophilin-2 in cell-cell adhesion and arrhythmogenic cardiomyopathy” – This article investigates the molecular mechanisms by which plakophilin-2 contributes to cell-cell adhesion and the pathogenesis of arrhythmogenic cardiomyopathy.
See also  JPH3 gene

In addition to these scientific articles, PubMed also provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the GeneReviews catalog. These resources offer additional information on the PKP2 gene, its associated diseases, and the clinical management of affected individuals.

Catalog of Genes and Diseases from OMIM

The PKP2 gene, also known as plakophilin 2, is listed in the catalog of genes and diseases from OMIM. It is a genetic registry that provides information on genes, their related diseases, and genetic changes associated with them. The PKP2 gene is specifically related to arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition characterized by abnormalities in the rhythm of the heartbeat and structural changes in the myocardium.

In addition to PKP2, other genes listed in the catalog include those associated with familial hypertrophic cardiomyopathy, familial dilated cardiomyopathy, and other cardiac conditions. OMIM provides clinical descriptions, scientific articles, references, and additional resources on these genes and their related diseases.

If you are interested in testing for genetic variants in the PKP2 gene or other genes related to cardiac conditions, OMIM offers information on available tests and laboratories that conduct these tests. Furthermore, OMIM provides links to other central databases and resources for further research on specific genes and diseases.

References:

  1. Plakophilin 2 (PKP2) gene: OMIM entry. Retrieved from https://omim.org/entry/173325
  2. Arrhythmogenic right ventricular cardiomyopathy (ARVC): OMIM entry. Retrieved from https://omim.org/entry/604400
  3. Wahl, P. L., & Wynshaw-Boris, A. (2007). Genetics of Human Disease (pp. 223-224). Academic Press.

Gene and Variant Databases

There are several gene and variant databases available for the arrhythmogenic gene PKP2. These databases provide crucial information related to the gene, its variants, and their associated clinical features. They serve as valuable resources for researchers, clinicians, and genetic testing laboratories.

  1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that lists genetic diseases and their related genes. It provides detailed information on the PKP2 gene, including its structure, function, and associated clinical manifestations. OMIM also references scientific articles and provides links to other relevant resources.

  2. The Plakophilin-2 Registry: The Plakophilin-2 Registry is a central repository for clinical and genetic information related to PKP2-associated diseases, particularly arrhythmogenic right ventricular cardiomyopathy (ARVC). It collects data from various sources, including published articles, clinical testing laboratories, and research studies.

  3. PubMed: PubMed is a widely used database for scientific articles in the field of health and medicine. It contains articles related to PKP2 and its variants, providing additional information on the gene’s role in arrhythmogenic conditions and related research studies.

Other gene and variant databases, such as the Wahl Cell Genes and Variant Catalog, also provide valuable information on PKP2 and its variants. These databases provide a comprehensive catalog of genes and variants associated with various diseases and can be utilized for genetic testing, research, and clinical purposes.

It is important to consult these databases for accurate and up-to-date information on the PKP2 gene and its variants. They serve as valuable resources in understanding the genetic basis of arrhythmogenic conditions and can aid in diagnosis, prognosis, and treatment decisions.

References

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