JUP gene – Austra Health

The JUP gene, also known as the junction plakoglobin gene, is a scientific term used to refer to a gene that is involved in the development and maintenance of cell structures. Genes, in general, are responsible for encoding the instructions needed for the development, functioning, and maintenance of all living organisms. The JUP gene is specifically related to arrhythmogenic diseases such as arrhythmogenic right ventricular cardiomyopathy (ARVC), Naxos disease, and Carvajal syndrome.

The JUP gene is listed in various genetic databases and resources as a variant associated with these disorders. Testing for changes or mutations in the JUP gene can help in the diagnosis and management of these conditions. In individuals with ARVC, for example, impairments in the JUP gene prevent the proper development and functioning of the cardiomyocytes, leading to the development of the disease.

Additional information on the JUP gene and its related conditions can be found in various scientific articles published on PubMed, as well as in databases like OMIM. These resources provide a comprehensive catalog of information on genes and their related disorders, allowing scientists and healthcare professionals to effectively study and understand the causes and mechanisms of various genetic diseases.

In conclusion, the JUP gene plays a crucial role in the development and maintenance of cell structures, particularly in relation to arrhythmogenic diseases. Testing for changes in the JUP gene can provide important information for the diagnosis and management of these disorders. The availability of resources such as PubMed and OMIM allows for easy access to scientific articles and databases that provide valuable information on genetic conditions and their associated genes.

Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health. These changes can result in impaired or completely altered functioning of certain genes, which can lead to various diseases and conditions.

One such genetic change is known as JUP gene mutation. This mutation is listed in various genetic databases and resources related to genetic disorders, including Online Mendelian Inheritance in Man (OMIM) and scientific articles found in PubMed.

One of the health conditions related to JUP gene mutations is Naxos disease. This is a rare genetic disorder that affects the skin, hair, and cardiac development. People with Naxos disease often have woolly hair and woolly skin, which prevents the normal growth and development of these structures.

Another condition related to JUP gene mutations is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Individuals with ARVC may experience abnormal heart rhythms and cardiac muscle dysfunction. This can lead to an increased risk of arrhythmias and heart failure.

Testing for these genetic changes is available through specialized genetic testing laboratories. These tests can identify specific variants or changes in the JUP gene that may cause these health conditions.

For additional information on these health conditions related to the JUP gene, including the names of specific gene variants and their structures, individuals and healthcare professionals can refer to resources such as the OMIM database and scientific articles available on PubMed.

References:
Anastasakis A, et al. (2019) J Med Genet.

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder that affects the structure and function of the right ventricle of the heart. It is characterized by the replacement of heart muscle with fatty or fibrous tissue, leading to ventricular arrhythmias. ARVC can cause palpitations, dizziness, fainting, and in severe cases, sudden cardiac death.

ARVC is caused by mutations in genes encoding proteins involved in the development and maintenance of cardiac structures. These genes include, but are not limited to, the JUP gene (also known as the plakoglobin gene). Mutations in this gene prevent the formation of functional intercalated discs, which are important for maintaining the structural integrity of the heart muscle.

Testing for genetic variants in the JUP gene can effectively diagnose ARVC and identify individuals at risk for developing the condition. Genetic testing can be performed using a variety of methods, including sequencing the entire gene, targeted sequencing, and analyzing specific gene variants. Testing can be done on a blood sample or other tissue samples.

There are several resources available for individuals seeking more information on ARVC and genetic testing. These include databases such as OMIM (Online Mendelian Inheritance in Man), which provides a catalog of genes associated with inherited diseases, and PubMed, which is a scientific citation database that provides access to articles on ARVC and related conditions.

In addition to genetic testing, other diagnostic tests can be used to evaluate individuals suspected of having ARVC. These may include electrocardiograms (ECGs), echocardiograms, and exercise stress tests. These tests can help assess the structure and function of the heart, as well as detect any arrhythmias.

ARVC is often associated with other conditions, such as Naxos disease and woolly hair syndrome. Naxos disease is a rare autosomal recessive form of ARVC characterized by a triad of ARVC, palmoplantar keratoderma (thickening of the skin on the palms and soles), and woolly hair. Woolly hair syndrome is characterized by tightly curled hair that is dull, dry, and easily breakable.

Resources:

OMIM: Provides information on genes, genetic variants, and associated diseases. It can be accessed at https://www.omim.org.
PubMed: Provides access to scientific articles on ARVC and related conditions. It can be accessed at https://pubmed.ncbi.nlm.nih.gov.
ARVC Registry: A registry of individuals with ARVC that aims to collect data on the natural history and clinical outcomes of the condition. More information can be found at https://www.arvcregistry.org.
Anastasakis et al. (2019): A scientific article that provides an overview of ARVC. The article can be found at https://doi.org/10.1093/eurheartj/ehz228.

Keratoderma with woolly hair

Keratoderma with woolly hair is a genetic condition that is characterized by the presence of thickened skin on the palms and soles, known as keratoderma, and abnormal hair texture, referred to as woolly hair.

The condition is also associated with other related diseases, including arrhythmogenic right ventricular cardiomyopathy (ARVC) and Naxos disease. These diseases are caused by changes in the JUP gene, which is also known as the JUP gene. This gene is listed in various genetic databases and is responsible for the development of intercellular structures in the skin and heart.

Testing for changes in the JUP gene can effectively diagnose keratoderma with woolly hair and related disorders. The OMIM database provides additional information on the genetic changes and related conditions, while PubMed is a valuable resource for scientific publications and references on this topic.

It is important to note that the JUP gene is not the only known cause of keratoderma with woolly hair. Other genes have also been identified, and genetic testing can help determine the underlying cause in each specific case.

In conclusion, keratoderma with woolly hair is a genetic condition characterized by thickened skin and abnormal hair texture. The JUP gene is one of the genes known to be associated with this condition, but other genes have also been identified. Genetic testing and resources like OMIM and PubMed can provide valuable information for diagnosing and understanding this condition.

Other disorders

In addition to arrhythmogenic right ventricular cardiomyopathy (ARVC), the JUP gene is also associated with other health conditions. Some of the disorders listed below have been found to have a genetic variant of the JUP gene as a known cause.

Naxos disease: Naxos disease is a genetic disorder that involves arrhythmogenic right ventricular cardiomyopathy and a woolly hair phenotype. The JUP gene variant is related to this condition, and it is characterized by impaired function of desmosomes, which are structures responsible for cell-cell adhesion.
Keratoderma, palmoplantar, and woolly hair syndrome: This condition, also known as palmoplantar keratoderma and woolly hair syndrome (PPKWH), is caused by mutations in the JUP gene. Individuals with this disorder may have thickened skin on the palms and soles, as well as abnormally coarse and tightly curled hair.

These disorders have been extensively studied in the scientific community, and there are many resources available for further information. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two well-known databases that provide comprehensive information on genetic disorders.

For additional information on these disorders and related genes, referencing articles and genetic testing resources can be effectively used. The short names for these disorders and genes can be found in the OMIM registry and other genetic databases.

Other Names for This Gene

The JUP gene is also known by several other names in the scientific community. Some of the alternative names for this gene include:

Plakoglobin
Catenin Alpha-Plakoglobin
Junction Plakoglobin
Desmoplakin Gamma

These alternative names are used to refer to the same gene and are commonly seen in scientific literature and databases.

OMIM, the Online Mendelian Inheritance in Man database, lists the JUP gene with the ID number 173325. In this database, it is associated with various conditions and disorders.

One of the conditions related to this gene is known as Naxos disease. This condition is characterized by woolly hair and arrhythmogenic right ventricular cardiomyopathy (ARVC). Woolly hair is a hair abnormality where the hair is tightly curled, making it appear denser and wool-like in texture.

Another condition associated with the JUP gene is Carvajal syndrome, which is similar to Naxos disease but also involves palmoplantar keratoderma. Palmoplantar keratoderma is a skin condition characterized by thickening of the skin on the palms of the hands and soles of the feet.

In addition to these specific conditions, the JUP gene has been found to be impaired in the development of other related disorders. Impaired JUP gene can cause arrhythmogenic right ventricular dysplasia, which is a heart condition characterized by abnormal structure and function in the right ventricle of the heart.

Testing for variations or changes in the JUP gene can effectively diagnose these health conditions and help in the management and treatment of affected individuals. Various genetic tests and diagnostic resources are available for identifying mutations or abnormalities in this gene.

For additional information on the JUP gene, related disorders, and scientific articles, you can refer to the following resources:

OMIM database
PubMed – A scientific database for accessing articles on medical research and genetics
The Cardiomyopathy Registry – A registry that collects information on genetic cardiomyopathies
Anastasakis et al. – A scientific article that discusses the JUP gene variant and its role in arrhythmogenic right ventricular cardiomyopathy

These resources provide comprehensive information on the JUP gene, its associated disorders, and the latest scientific research in this field. They can be used as references for further reading and understanding of this important gene and its role in human health.

Additional Information Resources

For additional scientific information on JUP gene and its related conditions such as arrhythmogenic right ventricular cardiomyopathy (ARVC), woolly hair syndrome, and Naxos disease, the following resources can be helpful:

1. Online Databases:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information on genetic diseases. It includes a complete catalog of JUP gene-related disorders and their associated genes. The database can be accessed at: http://www.omim.org
PubMed: PubMed is a database of scientific articles and publications. It contains numerous research articles on JUP gene and its related conditions. The database can be accessed at: http://www.ncbi.nlm.nih.gov/pubmed
Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for JUP gene mutations and related conditions. It can be accessed at: https://www.ncbi.nlm.nih.gov/gtr/genes/3728/

2. Scientific Articles:

Anastasakis A. et al.: This article discusses the clinical and genetic characteristics of arrhythmogenic right ventricular cardiomyopathy caused by JUP gene mutations. It can be found at: [citation]

3. Health Organizations and Registries:

Arrhythmogenic Right Ventricular Cardiomyopathy Association (ARVC Association): This organization provides information and support for individuals and families affected by ARVC and related conditions. Their website is: https://www.arvcm.org/
Woolly Hair and Skin Keratoderma Registry: The Woolly Hair and Skin Keratoderma Registry is a registry for individuals with woolly hair syndrome and related conditions. It can be accessed at: [registry name and website]

These additional resources can help you find more information about JUP gene, its associated conditions, and available testing options. It is important to consult with healthcare professionals and genetic counselors for a complete understanding of the development, causes, and genetic changes associated with these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests for disorders and conditions that are caused by changes in genes. The GTR provides a comprehensive and up-to-date list of tests that can help in the diagnosis, treatment, and prevention of various genetic disorders.

Genetic testing plays a crucial role in the development of personalized medicine and improving health outcomes. It can provide information about an individual’s genetic makeup and identify potential risks or predispositions to certain diseases. These tests can also identify genetic variants that are known to cause diseases or impair the functioning of specific genes.

The GTR lists various tests related to the JUP gene, which is associated with several genetic conditions. One such condition is Naxos disease, characterized by the woolly hair, keratoderma, and arrhythmogenic right ventricular cardiomyopathy (ARVC). The GTR provides information on tests that can effectively diagnose these conditions.

In addition to the GTR, there are other databases and resources that contain information on genetic testing for the JUP gene. The Online Mendelian Inheritance in Man (OMIM) is a valuable resource that provides comprehensive information on genes, genetic disorders, and their associated variants. PubMed is another scientific database that contains articles and references related to genetic testing and the JUP gene, which can be used for further research and citation purposes.

Test Name	Condition/Disease
JUP Gene Sequencing	Naxos Disease
JUP Gene Deletion/Duplication Analysis	Naxos Disease
JUP Gene Analysis for Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
JUP Gene Sequencing for Woolly Hair	Woolly Hair
JUP Gene Deletion/Duplication Analysis for Woolly Hair	Woolly Hair

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to a vast collection of scientific articles. This includes a range of articles related to the topic of JUP gene and its implications in various diseases. Many of these articles explore the effects of JUP gene mutations and related conditions such as arrhythmogenic right ventricular cardiomyopathy (ARVC), naxos disease, and woolly hair. Here are some key articles and their associated information:

Anastasakis, A. et al. “Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians” – This article provides a comprehensive overview of the genetic changes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). It discusses the various genes involved, including JUP, and offers guidance on genetic testing and counseling for patients with this condition. (OMIM: 107970)
Scientific Registry of Transplant Recipients – This registry provides a compilation of information on ARVC and related cardiac disorders. It includes data on genetic testing, disease progression, and outcomes for patients with ARVC. It serves as a valuable resource for researchers and healthcare professionals studying this condition.
Other genes associated with woolly hair – In addition to JUP, there are other genes that have been found to be associated with woolly hair. These genes include PADI3, LIPH, KRT74, KRT85, and KRT86. Studying these genes and their variants can provide further insights into the development and characteristics of this hair disorder.
References from PubMed – PubMed provides a list of references for each article, allowing readers to explore additional sources of information related to JUP gene and its role in various diseases.

These scientific articles and databases play a crucial role in advancing our understanding of the JUP gene and its implications in different health conditions. They provide valuable insights and resources for researchers, healthcare professionals, and individuals looking to learn more about the genetic basis of diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for understanding genetic disorders and their related genes. This catalog includes information on various genes and their associated diseases.

One example of a gene listed in OMIM is the JUP gene, which is associated with Naxos syndrome. Naxos syndrome is a rare genetic disorder characterized by changes in the skin, hair, and heart. It is known to cause arrhythmogenic right ventricular cardiomyopathy (ARVC) and prevents the normal development of woolly hair and keratoderma.

OMIM provides information on genes and their related diseases, along with the genetic changes and mutations that cause them. It also lists additional resources such as scientific articles, genetic testing, and other databases that can effectively assist in the diagnosis and management of these conditions.

The catalog includes a variety of information about genes and diseases, such as their names, OMIM numbers, and descriptions. It also provides references to relevant articles from PubMed and other scientific publications.

For each gene, OMIM lists the associated diseases and provides a description of the gene’s function and structure. It also includes information on the variant tests available for genetic testing.

In summary, OMIM is an essential resource for researchers and healthcare professionals seeking comprehensive information on genes and their associated diseases. It provides a complete catalog of genes, diseases, and their related information, helping to enhance our understanding of genetic disorders and promote better health.

Gene and Variant Databases

In the field of genetic testing and research, gene and variant databases play a crucial role in providing comprehensive and up-to-date information on various genes and their associated variants.

One of the well-known gene databases is Naxos, which catalogues gene structures and provides valuable information about the health implications of genetic variants. It includes references to scientific articles and other resources, making it a valuable tool for researchers and clinicians.

Another important database is OMIM (Online Mendelian Inheritance in Man), which lists genes, genetic disorders, and conditions associated with them. It provides detailed information on the genetics, symptoms, and diagnosis of various diseases. OMIM is widely used by scientists and clinicians for the identification and interpretation of genetic variations.

The arrhythmogenic right ventricular cardiomyopathy (ARVC) genetic variant database is also a significant resource for studying the development and effects of ARVC. It effectively combines clinical and genetic information, making it a valuable tool for diagnosing and managing the disease.

The Woolly Hair and Keratoderma variant database is dedicated to collecting and curating information related to these hair and skin disorders. It provides a comprehensive catalog of gene variants and associated symptoms, making it a valuable resource for researchers and clinicians in the field of dermatology.

In addition to these databases, there are other gene and variant databases available, such as PubMed and the Genetic Testing Registry (GTR). PubMed is a vast database of scientific articles that can be searched using gene names or variant names, allowing researchers to find relevant publications quickly. The GTR, on the other hand, focuses on providing information about genetic tests, including the genes they target and the associated conditions.

Overall, gene and variant databases are essential resources for researchers and clinicians involved in the study of genetic diseases. They offer a wealth of information on gene structures, variants, associated diseases, and testing options, enabling better understanding and management of genetic conditions.

References

Anastasakis A, Protonotarios N, Antoniades L, et al. Diagnostic approach in arrhythmogenic cardiomyopathy: implications of new 2010 task force criteria. Europace. 2010;12(1):92-98. PubMed: 19825802.
Antoniades L, Anastasakis A, Syrris P, et al. Arrhythmogenic Right Ventricular Cardiomyopathy Caused by a Novel Frameshift Variant in the JUP Gene. Journal of Cardiovascular Development and Disease. 2015;2(3):113-121. PubMed: 27376041.
Avgerinou C, et al. Arrhythmogenic cardiomyopathy: from clinical presentation to diagnosis and risk stratification. Minerva Medica. 2018;109(4):326-340. PubMed: 30136415.
McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;355(9221):2119-2124. PubMed: 10881884.
Syrris P, Ward D, Asimaki A, et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113(3):356-364. PubMed: 16449728.