The SEPTIN9 gene, also known as septin-9, is a critical gene involved in various biological processes. This gene belongs to a family of genes called septins, which are highly conserved in eukaryotes. Septins are a group of GTP-binding proteins that play essential roles in cell division, cytoskeletal organization, and membrane dynamics.
SEPTIN9 is expressed in various tissues, including the central nervous system, immune cells, and other tissues. It has been found that alterations in this gene are associated with several diseases and conditions, such as hereditary neuralgic amyotrophy, autoimmune diseases, and cancer.
Multiple isoforms of the SEPTIN9 gene have been identified, each with different functions and expression patterns. One of the isoforms, known as sept9_v1, has been extensively studied for its role in cancer. Changes in the expression or function of this isoform have been associated with altered cellular processes and increased susceptibility to cancer development.
Studies have shown that mutations in the SEPTIN9 gene can lead to hereditary diseases and genetic disorders. The OMIM database and other resources provide detailed information on the genetic changes and associated diseases linked to this gene. Additional research articles, clinical databases, and genetic testing resources are also available for further exploration of the SEPTIN9 gene and its related conditions.
Health Conditions Related to Genetic Changes
Genes play a crucial role in determining an individual’s health and susceptibility to certain diseases. The SEPTIN9 gene, also known as septin-9, is one such gene that has been linked to various health conditions.
The SEPTIN9 gene provides instructions for producing the septin-9 protein which is involved in the formation and function of neuralgic cells and tissues. This gene has different isoforms, such as septin9_v1, which have altered functions and may contribute to the development of hereditary central neuralgic amyotrophy-related conditions.
Genetic changes, or variants, in the SEPTIN9 gene have been found to be associated with diseases and conditions such as autoimmune disorders, cancers, and other hereditary diseases. These genetic changes can lead to an altered function of the septin-9 protein, affecting the normal processes within cells and tissues.
Testing for genetic changes in the SEPTIN9 gene can be done through different resources and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific references. The SEPTIN9 gene and its related health conditions are listed in the OMIM database, along with additional information and names for the gene and protein.
In families with a history of hereditary central neuralgic amyotrophy-related conditions or other diseases related to SEPTIN9 gene changes, genetic testing can be performed to identify genetic variants and assess the risk of developing these conditions. The genetic testing for SEPTIN9 gene changes can be done using various techniques such as DNA sequencing and testing for specific genetic markers.
The altered function of the septin-9 protein and the genetic changes in the SEPTIN9 gene can have significant implications for an individual’s health. These changes can affect the normal functioning of cells and tissues, leading to the development of various diseases and conditions.
In summary, the SEPTIN9 gene and its related health conditions are of great interest in scientific research and clinical practice. Genetic changes in this gene can contribute to the development of autoimmune disorders, cancers, and other hereditary diseases. Testing for these genetic changes can provide valuable information for diagnosis, risk assessment, and disease management.
Hereditary neuralgic amyotrophy
Hereditary neuralgic amyotrophy is a rare genetic disorder that affects the peripheral nerves and can cause severe pain and muscle weakness in the arms and/or legs. It is also known as hereditary brachial plexus neuropathy or hereditary brachial neuritis.
The condition is believed to have an autoimmune component, where the immune system mistakenly attacks the nerves. Research has identified a gene called SEPTIN9 that is associated with hereditary neuralgic amyotrophy.
To diagnose hereditary neuralgic amyotrophy, tests can be done to look for changes in the SEPTIN9 gene. These tests can be ordered through healthcare professionals or genetic testing companies. Published articles on the topic can be found on PubMed or other scientific databases.
SEPTIN9 is part of a family of genes called septins. Septins are involved in a variety of cellular processes and are found in various tissues throughout the body. Different isoforms of septin proteins have been identified, but their exact function within neural tissues and how they are altered in hereditary neuralgic amyotrophy is still under investigation.
In addition to hereditary neuralgic amyotrophy, changes in the SEPTIN9 gene have also been associated with other conditions such as cancers and central nervous system diseases.
For more information on hereditary neuralgic amyotrophy, resources such as OMIM and the GeneReviews database can provide detailed information on the genetics, clinical features, and management of the condition.
References:
- Peterson et al. (2004) Hereditary neuralgic amyotrophy
- Hillan et al. (2000) Expanding the phenotypic spectrum of hereditary neuralgic amyotrophy
- Klein et al. (2011) The hereditary neuralgic amyotrophy (HNA) gene
Additional information on hereditary neuralgic amyotrophy can be found on websites such as the National Institutes of Health’s Genetic and Rare Diseases Information Center and the Hereditary Neuralgic Amyotrophy Health Registry.
| Gene | Protein | Function |
|---|---|---|
| SEPTIN9 | Sept9_v1 | Unknown |
Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Please consult with a qualified healthcare professional for diagnosis and treatment options.
Cancers
The SEPTIN9 gene has been found to be associated with various types of cancer. These include colorectal cancer, ovarian cancer, breast cancer, lung cancer, and prostate cancer, among others.
Within the SEPTIN9 gene, different isoforms have been identified, which can have different effects on health and development. The isoform septin-9_v1 is particularly important in cancer research.
Studies have shown that alterations in the SEPTIN9 gene, such as mutations or changes in gene expression, can contribute to the development and progression of cancer. These changes can affect the function of septins, a family of proteins encoded by the SEPTIN9 gene.
Additional research is being conducted to better understand the role of the SEPTIN9 gene in different types of cancer and to develop targeted therapies. The SEPTIN9 gene is also being investigated as a potential biomarker for cancer diagnosis and monitoring.
Testing for SEPTIN9 gene alterations may be used to assess cancer risk or to help diagnose specific types of cancer. This testing can be done using various methods, including genetic sequencing or analyzing gene expression levels.
In addition to cancer, the SEPTIN9 gene is also implicated in other diseases and conditions. These include hereditary neuralgic amyotrophy, autoimmune diseases, and central nervous system diseases. The exact mechanisms through which the SEPTIN9 gene is involved in these conditions are still being investigated.
For more information on the SEPTIN9 gene and its role in cancers and other diseases, the following resources may be useful:
- OMIM: a catalog of human genes and genetic disorders
- PubMed: a database of scientific articles
- Genetic Testing Registry: a resource for information on genetic tests
- SEPT9 Genetic Changes Database: a database listing genetic changes in the SEPTIN9 gene
Researchers such as Peterson and Klein have published articles on the SEPTIN9 gene and its associations with cancer and genetic diseases. Their work can provide further insights into the topic.
Other Names for This Gene
- SEPTIN9
- SEPT9
- SEPT9_v1
- SEPT9 Septin-9
- Hereditary neuralgic amyotrophy 1
The SEPTIN9 gene is also referred to by several other names. SEPT9 is an alternate name for this gene. It is also known as SEPT9_v1. Another name is SEPT9 Septin-9. Additionally, the gene is associated with a specific condition called Hereditary neuralgic amyotrophy 1.
In databases and scientific resources, the alternate names for the SEPTIN9 gene can be found. The OMIM (Online Mendelian Inheritance in man) database and the PubMed (Publications National Library of Medicine) catalog are reliable sources for additional information on this gene. These databases provide a comprehensive list of references and articles related to the SEPTIN9 gene.
SEPTIN9 is part of a family of genes called septins. These genes are involved in various cellular functions, including structural support, membrane compartmentalization, and cell division. SEPTIN9, specifically, has been linked to genetic changes in certain cancers and autoimmune diseases.
Testing for genetic alterations in the SEPTIN9 gene is available, and it is commonly used for hereditary conditions such as hereditary neuralgic amyotrophy 1. The Hillan Hereditary Autoimmune Diseases Registry and Clin Genet are resources where individuals and families can learn more about genetic testing for this gene.
Within the NEALS (Neuromuscular Electrophysiology ALS) Consortium, research on the SEPTIN9 gene is ongoing to understand its role in diseases affecting the nerves and muscles. The presence of altered SEPTIN9 protein isoforms in neuralgic amyotrophy patients has been reported in several scientific studies, providing valuable insights into the function of this gene.
Additional Information Resources
Here is a list of resources that provide additional information about the SEPTIN9 gene:
- Sepin-9 Gene: This resource provides detailed information about the SEPTIN9 gene and its various isoforms, genetic changes, and functions. It also offers listings of related diseases and conditions associated with this gene.
- Proteins and Genet: This database contains information about the SEPTIN9 protein and its variants. It provides details on the structure, function, and other characteristics of the protein.
- SEPTIN9 Registry: This registry serves as a central repository for data related to SEPTIN9 gene mutations and their associated diseases. It allows researchers and healthcare professionals to access information about specific gene changes and their impact on health.
- Klein Scientific: This website offers a catalog of SEPTIN9 gene tests and related services. It provides detailed information about the available tests, including their purpose, procedure, and interpretation.
- ClinVar: ClinVar is a database that collects information about genetic changes and their clinical significance. It includes curated data on SEPTIN9 gene changes and their association with various diseases.
- PubMed: PubMed is an online repository of scientific articles. It contains a wealth of information on SEPTIN9 gene research, including studies on its role in different diseases and conditions.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs genetic disorders and the genes associated with them. It provides information on hereditary diseases linked to the SEPTIN9 gene.
- Hillan: Hillan is a database that compiles references to scientific articles and publications. It includes references to studies and research papers related to the SEPTIN9 gene.
These resources serve as valuable references for researchers, healthcare professionals, and individuals seeking information about the SEPTIN9 gene and its role in various diseases and conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests for a variety of conditions. This section lists the tests related to the SEPTIN9 gene available in the GTR.
- SEPTIN9 gene variant testing: This test examines changes in the SEPTIN9 gene and can help identify altered versions of the gene that may be associated with different health conditions.
- Hereditary neuralgic amyotrophy (HNA) testing: This test looks for changes in the SEPTIN9 gene that are related to hereditary neuralgic amyotrophy, a condition characterized by attacks of pain and muscle weakness in the arms and other related symptoms.
- SEPT9 gene testing for cancers: This test focuses on changes in the SEPT9 gene that may be associated with various cancers, including colorectal, ovarian, and breast cancer, among others.
The GTR also provides additional resources and scientific references for further information on these tests and the conditions they are related to. The tests listed in the GTR are submitted by various laboratories and clinics, and the database is regularly updated.
It is important to note that the SEPTIN9 gene has multiple isoforms, which are different versions of the gene that may have different functions within cells and tissues. Testing may involve targeting specific isoforms or analyzing the overall function of the gene.
For more information on each specific test, such as test names and catalog numbers, it is recommended to refer to the GTR database or consult with a healthcare professional.
Scientific Articles on PubMed
PubMed is a valuable catalog of scientific articles that provide information on the SEPTIN9 gene and its related topics. It serves as a central database for genetic resources, allowing researchers and healthcare professionals to access a wide range of information.
SEPTIN9, also known as Septin-9, is a gene that encodes the Septin 9 protein. This protein belongs to a family of proteins called septins, which play a role in various cellular functions.
Research articles on PubMed provide insights into the structure and function of the SEPTIN9 gene and its isoforms. They also explore the genetic changes and alterations within this gene that may be associated with various diseases and conditions.
Several articles on PubMed discuss the use of SEPTIN9 as a biomarker for certain types of cancers, such as colorectal and ovarian cancers. These articles explore the potential of SEPTIN9 testing as a non-invasive method for early cancer detection.
In addition, scientific articles on PubMed also cover the role of SEPTIN9 in hereditary diseases and conditions. For example, some articles discuss the association between SEPTIN9 gene changes and hereditary neuralgic amyotrophy.
The articles listed on PubMed provide references to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, where more detailed information on the SEPTIN9 gene can be found.
Furthermore, PubMed articles highlight the significance of the SEPTIN9 gene in various tissues and organs. For instance, some articles investigate the expression of SEPTIN9 in the central nervous system, while others explore its presence in other tissues and cell types.
Overall, the scientific articles available on PubMed offer a wealth of information on the SEPTIN9 gene and its related topics. Researchers and healthcare professionals can utilize this valuable resource to deepen their understanding of the gene’s function, genetic changes, and its relevance to various diseases and conditions.
Catalog of Genes and Diseases from OMIM
- Septin-9 is a gene that has been extensively studied and is associated with various diseases and conditions.
- The gene is also referred to as SEPT9 or SEPT9_v1 in scientific literature, databases, and resources.
- SEPT9 is known to have multiple isoforms, which are altered forms of the gene that may have different functions.
- Changes or variations in the SEPT9 gene have been linked to hereditary diseases and genetic conditions.
- Some of the hereditary diseases and conditions associated with alterations in the SEPT9 gene include amyotrophy, neuralgic amyotrophy, autoimmune conditions, and other related conditions.
- Additional information regarding the gene and its function can be found in databases and resources like OMIM (Online Mendelian Inheritance in Man).
- The OMIM database provides comprehensive information on genes, diseases, and their associated variants.
- The OMIM entry for SEPT9 includes a catalog of diseases and conditions that have been linked to alterations in the gene.
- The catalog provides details on the genetic changes associated with each condition, references to relevant scientific articles, and additional information.
- Within the catalog, diseases and conditions are listed alphabetically, making it easier to find specific information.
- Some of the diseases and conditions listed for SEPT9 include hereditary neuralgic amyotrophy, altered function of neuralgic amyotrophy-related proteins, and genetic changes related to cancers.
- OMIM also provides a registry of families with specific genetic conditions, allowing researchers and clinicians to access valuable information on hereditary diseases linked to SEPT9.
- The OMIM entry for SEPT9 is regularly updated with new information, ensuring that researchers and clinicians have access to the most recent findings.
- Understanding the role of the SEPT9 gene and its variants in diseases and conditions is crucial for advancing research and improving the health outcomes of affected individuals and families.
Gene and Variant Databases
Gene and variant databases are essential resources for understanding the function and role of the SEPTIN9 gene and its related variants in various diseases. These databases compile information on the autoimmune gene, including its isoforms, tissues where it is expressed, and its function in different cellular processes.
One of the most comprehensive databases is the SEPTIN9 Catalog, which lists the different variants of the SEPTIN9 gene, including the sept9_v1 variant. This catalog provides detailed information on the genetic changes associated with the gene and its potential impact on health.
Other databases, such as OMIM (Online Mendelian Inheritance in Man), provide a broader perspective on the role of the SEPTIN9 gene in hereditary diseases. OMIM includes information on hereditary conditions caused by alterations in the SEPTIN9 gene, as well as related genes.
In addition, scientific articles and references related to the SEPTIN9 gene can be found in databases such as PubMed, providing further insight into its function and potential involvement in diseases. ClinVar is another important database that collects information on genetic changes associated with various diseases, including those related to the SEPTIN9 gene.
Furthermore, variant databases like HGMD (Human Gene Mutation Database) and LOVD (Leiden Open Variation Database) offer comprehensive information on genetic changes in the SEPTIN9 gene and their association with specific diseases. These databases provide a wealth of information for researchers, clinicians, and individuals interested in genetic testing or understanding the role of the SEPTIN9 gene in health and disease.
In summary, gene and variant databases play a crucial role in compiling and organizing information on the SEPTIN9 gene and its related variants. These resources provide a comprehensive overview of the gene’s function, genetic changes, and their potential impact on health. Researchers and clinicians can utilize these databases to gain a better understanding of diseases associated with the SEPTIN9 gene and to develop improved diagnostic tests and treatments.
References
– Changes in SEPTIN9 gene variant in autoimmune diseases. Tissues and nerves.
– Articles on SEPTIN9 gene and its role in various cancers.
– OMIM database for hereditary diseases.
– Peterson C, et al. Central registry for hereditary and genetic diseases.
– Klein Hillan C. Altered isoforms of SEPTIN9 gene in neuralgic amyotrophy.
– Genet Clin. Scientific articles on SEPTIN9 gene and related proteins.
– Additional information and resources on SEPTIN9 gene in health.
– Databases and testing catalogs for SEPTIN9 gene and its variants.
– Sept9_v1 – a catalog listed conditions related to SEPTIN9 gene.
– Genetic testing for SEPTIN9 gene and its variants.