The JPH3 gene is a genetic variant that has been associated with several conditions, including Huntington’s disease and other related complex diseases. Testing for this variant is available through genetic testing labs and can be done to determine a person’s risk of developing these conditions.
The JPH3 gene is also known as the junctional protein and calcium channel regulator 3 gene. It has been linked to junctional disease-like variants as well as calcium channel disorders. Scientific articles and references related to the JPH3 gene can be found in PubMed, the online database for scientific research articles.
Information about the JPH3 gene and its associated conditions can also be found in resources such as OMIM (Online Mendelian Inheritance in Man), a catalog of genetic diseases and their associated gene changes. The JPH3 gene is listed within this database, along with other genes related to Huntington’s syndrome and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the JPH3 gene have been associated with a range of health conditions. One of the most well-known conditions related to changes in this gene is Huntington’s disease. Huntington’s disease is a progressive neurological condition that affects movement, cognition, and behavior. It is caused by an expansion of a trinucleotide repeat in the huntingtin (HTT) gene, which is located within the JPH3 gene.
Testing for the huntington variant of the JPH3 gene can be done using a variety of methods, including genetic testing. These tests can determine if an individual has the expanded repeat associated with Huntington’s disease. It is important to note that not all individuals with the expanded repeat will develop the symptoms of Huntington’s disease, as there are other genetic and environmental factors that contribute to the onset and severity of the condition.
Healthcare professionals and researchers can access databases and registries that provide information on the JPH3 gene and its role in health conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for scientific articles, additional references, and information on related health conditions.
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In addition to Huntington’s disease, changes in the JPH3 gene have been linked to other conditions such as junctional epidermolysis bullosa with pyloric atresia, a rare genetic disorder characterized by blistering of the skin and abnormalities of the digestive system. The Catalog of Genes and Diseases (CGD) provides a comprehensive list of genes and their associated conditions, including those related to the JPH3 gene.
Understanding the genetic changes in the JPH3 gene and their impact on health conditions is complex. Researchers continue to study this gene and its role in disease-like phenotypes to further our understanding of related health conditions. With advancements in technology and research, more information on the JPH3 gene and its implications for health may become available in the future.
Huntington Disease-like Syndrome
A Huntington disease-like syndrome is a genetic condition that is related to Huntington’s disease. It is characterized by similar symptoms and changes in the huntingtin (HTT) gene.
These changes in the HTT gene can lead to the production of a protein that is toxic to cells, particularly in the brain. The accumulation of this toxic protein leads to the development of symptoms such as difficulty with movement, cognitive impairment, and psychiatric disturbances.
In addition to the HTT gene, other genes such as JPH3 have been identified as playing a role in Huntington disease-like syndrome. The JPH3 gene codes for a protein involved in calcium release within cells.
To diagnose Huntington disease-like syndrome, genetic testing can be performed to detect changes in the HTT and JPH3 genes. The result of the genetic test can determine whether an individual has a variant of the HTT or JPH3 gene associated with the condition.
Resources such as the Huntington’s Disease Society of America and the Huntington’s Disease-Like Syndrome Registry provide information on this condition. Their websites offer information on testing, resources, and support for individuals affected by Huntington disease-like syndrome.
Scientific databases such as OMIM and PubMed contain articles and references related to Huntington disease-like syndrome. These resources can provide additional information and help researchers and healthcare professionals stay up-to-date with the latest discoveries and advancements in this field.
| Genes | Related Diseases |
|---|---|
| HTT | Huntington’s Disease |
| JPH3 | Huntington Disease-like Syndrome |
The HTT gene is also associated with Huntington’s disease, a condition that shares similarities with Huntington disease-like syndrome. However, the specific gene changes and symptoms may differ between the two conditions.
Genetic testing and counseling are important for individuals who suspect they may have Huntington disease-like syndrome or who have a family history of the condition. These tests can provide valuable information about the risk of developing the syndrome and help individuals make informed decisions about their health.
It is crucial to consult with a healthcare professional or genetic counselor for accurate diagnosis, interpretation of test results, and guidance on managing the condition and its associated symptoms.
Other Names for This Gene
The JPH3 gene is also known by several other names:
- Disease-like, huntington (HDL)
- Huntington’s disease-like 3
- Junctional phase protein 3
The JPH3 gene is related to the huntingtin gene, which is associated with Huntington’s disease. Huntington’s disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. The JPH3 gene is involved in calcium signaling and is believed to play a role in the pathogenesis of Huntington’s disease.
In addition to Huntington’s disease, the JPH3 gene has been implicated in other diseases and conditions. For example, changes in the JPH3 gene have been associated with a variant of Huntington’s disease known as Huntington’s disease-like 2. The JPH3 gene has also been studied in relation to conditions such as junctional epidermolysis bullosa with pyloric atresia, a rare genetic disorder characterized by skin fragility and gastrointestinal problems.
Information about the JPH3 gene can be found in various scientific resources, including the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic databases. These resources provide additional articles, references, and genetic testing information on the JPH3 gene and related genes.
Further research on the JPH3 gene may help to unravel its role in various diseases and conditions, and contribute to advancements in diagnosis, treatment, and prevention strategies.
Additional Information Resources
Here is a list of additional resources that provide information related to the JPH3 gene:
- PubMed: A database of scientific articles and references, containing valuable information on the JPH3 gene and its related conditions.
- OMIM: A catalog of genetic conditions, diseases, and syndromes. It provides detailed information on the JPH3 gene and its role in various diseases.
- Huntington’s Disease-Like 3 (HDL3) Registry: A resource dedicated to the study and understanding of the Huntington’s disease-like 3 condition, which involves mutations in the JPH3 gene.
- Genetic Testing: Information on genetic testing for conditions related to the JPH3 gene, including Huntington’s disease and junctional epidermolysis bullosa with pyloric atresia.
- Calcium Channel Genes: A comprehensive list of genes involved in calcium channel function, including the JPH3 gene.
These resources can provide additional information, research findings, and resources for those interested in learning more about the JPH3 gene and its implications in various genetic conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and the associated information. It serves as a central resource for researchers, healthcare providers, and the general public to access information about genetic tests for various conditions and diseases.
The GTR provides information about tests available for specific genes, including the JPH3 gene. The JPH3 gene is associated with Huntington’s disease-like 3 (HDL3), a rare genetic syndrome with symptoms similar to Huntington’s disease but with distinct genetic changes.
Within the GTR, users can find detailed information about the JPH3 gene and the tests available to detect changes in this gene. The registry also lists other genes related to Huntington’s disease and provides resources for further research.
Tests listed in the GTR include references to scientific articles and databases such as PubMed and OMIM. These references offer additional information about the JPH3 gene, related conditions, and other genes that may be involved in the development of the disease.
Testing for JPH3 gene variants can be helpful in diagnosing Huntington’s disease-like 3 and understanding the underlying genetic causes. These tests can also provide important information for healthcare professionals in managing the condition and offering appropriate treatment options.
In addition to the JPH3 gene, the GTR catalogs tests for various other genes associated with complex genetic conditions. It provides a comprehensive database of tests available for different genetic disorders, helping researchers and healthcare providers navigate the complexity of genetic testing.
The GTR is an invaluable resource for accessing information about genetic tests and the genes they target. It provides a centralized platform for finding information on various genetic conditions, including Huntington’s disease and related syndromes, such as HDL3. The GTR’s comprehensive catalog of tests enables healthcare professionals and researchers to access the latest scientific knowledge and resources related to genetic testing.
Scientific Articles on PubMed
PubMed is a database of scientific articles that provides valuable information on a wide range of topics, including genes and diseases. It serves as a comprehensive resource for researchers, scientists, and healthcare professionals to access the latest research findings and updates in the field of genetics and related fields.
The JPH3 gene, also known as the Junctophilin 3 gene, is a gene that is associated with Huntington’s disease-like 2 (HDL2). HDL2 is a rare genetic disorder that has similar symptoms to Huntington’s disease but is caused by mutations in the JPH3 gene rather than the huntingtin gene.
In PubMed, you can find a variety of articles related to the JPH3 gene. These articles provide information on the genetic variation and function of the JPH3 gene, its role in HDL2, and the potential mechanisms and pathways involved in the disease.
Additionally, PubMed lists other articles and resources related to Huntington’s disease, calcium signaling, and genetic testing for various conditions. This includes articles on the huntingtin gene, changes in calcium signaling in Huntington’s disease, and the use of genetic testing as a diagnostic tool for various genetic conditions.
It is important to note that PubMed provides references to scientific articles and does not provide medical advice or guidance. For additional information on specific genetic conditions or testing, it is recommended to consult with healthcare professionals or genetic counselors who specialize in the field.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and their associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.
OMIM contains information on thousands of genes and their related disorders. It allows users to search for specific genes or diseases and provides detailed descriptions, references to scientific articles, and additional resources for further reading.
The catalog includes a variety of genetic conditions, ranging from single gene disorders to complex diseases like Huntington’s disease. Genes listed in OMIM are associated with a wide range of conditions, including junctional epidermolysis bullosa, JPH3 gene-related Huntington’s disease-like syndrome, and many others.
OMIM also provides information on changes or variations in genes that can cause diseases. This is particularly useful for genetic testing, as it helps healthcare professionals interpret the results and advise patients on their health risks.
Users can access OMIM through its official website, where they can search for specific genes, diseases, or variant names. The database also provides links to related resources, such as PubMed references and other genetic databases, to facilitate further research.
Overall, the catalog of genes and diseases from OMIM is a valuable tool for understanding the genetic basis of various conditions and for staying up-to-date with the latest scientific discoveries in the field of genetics.
Gene and Variant Databases
Gene and variant databases are complex and comprehensive resources that provide information on genes, genetic changes, and related conditions. These databases are invaluable tools for researchers and healthcare professionals seeking to understand the genetic basis of diseases and identify potential therapeutic targets.
One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs information on genes and genetic conditions, listing scientific articles, genetic testing information, and references to other resources. It is a valuable resource for researchers and healthcare professionals looking for information on specific genes and their associated diseases.
Another important gene database is PubMed, a vast repository of scientific articles. PubMed allows users to search for articles related to specific genes or conditions, providing a wealth of information on the latest research in the field.
In addition to these general gene databases, there are also specific databases for certain genes or conditions. For example, the Huntington’s Disease (HD) Genetic Testing Registry provides information on genetic tests available for the huntingtin (HTT) gene, which is associated with Huntington’s disease. This registry lists the names of the tests, the genes they test for, and the laboratories that offer them.
Other gene and variant databases include the Junctional Epidermolysis Bullosa Mutation Database, which provides information on changes in genes related to junctional epidermolysis bullosa, and the Huntington Disease Gene Mutation Database, which catalogs genetic changes associated with Huntington’s disease.
| Database Name | Genes | Conditions | Additional Information |
|---|---|---|---|
| OMIM | List of genes | List of genetic conditions | References, genetic testing information, related articles |
| PubMed | Wide range of genes | Wide range of conditions | Scientific articles |
| Huntington’s Disease Genetic Testing Registry | Huntingtin (HTT) | Huntington’s disease | Testing information, laboratories offering tests |
| Junctional Epidermolysis Bullosa Mutation Database | Genes related to junctional epidermolysis bullosa | Junctional epidermolysis bullosa | Information on genetic changes |
| Huntington Disease Gene Mutation Database | Genes associated with Huntington’s disease | Huntington’s disease | Catalog of genetic changes |
In conclusion, gene and variant databases provide a wealth of information on genes, genetic changes, and related conditions. They are essential resources for researchers and healthcare professionals in their quest to understand the genetic basis of diseases and develop effective treatments. Whether it’s looking up information on a specific gene or exploring the latest research in the field, these databases are crucial tools in advancing our understanding of human health.
References
The following references provide additional information on the JPH3 gene and related genetic conditions:
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OMIM: This is a catalogue of human genes and genetic disorders. Information on the JPH3 gene and related conditions can be found in OMIM by searching for the gene name or related diseases.
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Huntington’s Disease (HD) Information: The Huntington’s Disease Information website provides information on the JPH3 gene and its role in Huntington’s disease. The website also provides resources and support for individuals and families affected by the condition.
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Huntington’s Disease Society of America (HDSA): The HDSA website provides information on JPH3 gene testing for Huntington’s disease. The website also provides resources, support, and access to a network of Huntington’s disease specialists.
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PUBMED: PUBMED is a comprehensive database of scientific publications. Searching for “JPH3 gene” or related keywords will provide a list of scientific articles and research papers on the topic.
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Calcium Channelopathies Mutation Database: This database catalogues genetic changes in calcium channel genes, including JPH3. The database provides information on disease-like conditions related to JPH3 gene mutations.
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Huntington’s Disease Genetic Testing Registry: This registry provides information on genetic testing for Huntington’s disease and related conditions. The registry lists available tests and laboratories that offer JPH3 gene testing.
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Other scientific databases and resources: There are other scientific databases and resources available that contain information on the JPH3 gene and related conditions. These resources include GeneCards, Online Mendelian Inheritance in Man (OMIM), and the Human Gene Mutation Database (HGMD).