The SEPSECS gene is a genetic gene that is responsible for the production of selenoproteins. Selenoproteins are a group of proteins that contain the trace element selenium, and they are involved in a variety of important cellular processes. Mutations in the SEPSECS gene can lead to a number of genetic diseases and conditions, including pontocerebellar hypoplasia, SLALP (selenoprotein-associated neurological disease), and other related disorders.
Researchers have been studying the SEPSECS gene and its role in health and disease. Through registries and databases such as PubMed, scientists have compiled a wealth of information on the gene and its variants. This information has been utilized by researchers and health professionals for additional testing, diagnosis, and treatment options for people with genetic diseases and conditions related to the SEPSECS gene.
In scientific articles and references, the SEPSECS gene is often mentioned in relation to other genes and genetic changes. This highlights the complex interplay between genes and their role in various diseases and conditions. By studying the SEPSECS gene and its interactions with other genes, researchers hope to uncover new insights into the underlying causes of genetic disorders and develop targeted therapies.
In conclusion, the SEPSECS gene plays a crucial role in the production of selenoproteins and is associated with a range of genetic diseases and conditions. Various resources, such as registries, databases, and scientific articles, provide information on the gene, its variants, and related testing. Continued research on the SEPSECS gene and its interactions with other genes will further our understanding of genetic disorders and aid in the development of effective treatments.
Health Conditions Related to Genetic Changes
Genetic changes in the SEPSECS gene can lead to various health conditions. The SEPSECS gene provides instructions for the production of an enzyme called tRNA 2-selenouridine synthase, which is involved in the synthesis of selenoproteins. Selenoproteins play important roles in various cellular processes, including antioxidant defense and thyroid hormone metabolism.
Changes in the SEPSECS gene have been associated with several diseases and health conditions. Some of these conditions include:
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- Pontocerebellar hypoplasia: Certain variants of the SEPSECS gene have been found to cause pontocerebellar hypoplasia, a group of rare neurological disorders characterized by underdevelopment (hypoplasia) of certain parts of the brain.
- Additional health conditions: Other health conditions may also be caused by genetic changes in the SEPSECS gene. For detailed information on these additional conditions, researchers and healthcare professionals can refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR).
It is important to note that the presence of genetic changes in the SEPSECS gene does not necessarily mean that a person will develop a specific health condition. The impact of these genetic changes can vary and may be influenced by other genetic and environmental factors.
For more information on the diseases and conditions related to the SEPSECS gene, researchers and healthcare professionals can consult scientific articles available on PubMed and other scientific databases. Genetic testing can also provide valuable insights into the presence of genetic variants in the SEPSECS gene and their potential implications for an individual’s health.
References:
- OMIM: https://www.omim.org/entry/613009
- Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/tests/?term=SEPSECS
- PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=SEPSECS
Pontocerebellar hypoplasia
Pontocerebellar hypoplasia (PCH) is a rare genetic disorder characterized by underdevelopment (hypoplasia) of the pons and cerebellum in the brain. This condition affects the development and functioning of the brain, leading to severe neurological problems.
Scientific research and medical literature provide valuable information on PCH. Researchers have identified several genes associated with PCH, including SEPSECS. SEPSECS is responsible for the production of selenocysteine, which is essential for the synthesis of selenoproteins involved in crucial cellular processes.
References to scientific articles and research papers on PCH can be found in databases like PubMed. These resources provide detailed information on the genetic changes, clinical features, and diagnostic testing methods associated with PCH. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for finding information on PCH and related conditions.
Many people with PCH undergo genetic testing to identify the specific gene variant causing the condition. The SEPSECS gene is one of the genes commonly tested for mutations in individuals suspected to have PCH. Mutations in SEPSECS can lead to abnormal tRNA modification and selenoprotein synthesis, which are vital processes for proper brain development.
Additional genetic changes in other genes have also been linked to PCH, such as those associated with the SLALP gene. Understanding the genetic basis of PCH can help in diagnosis, counseling, and guiding appropriate management strategies.
Healthcare providers, researchers, and families affected by PCH can benefit from accessing scientific resources, databases, and articles to stay informed about the latest advancements in understanding and managing this rare disease.
Other Names for This Gene
The SEPSECS gene is also known by other names, including:
- TRNA Splicing Endonuclease Subunit SepSecS
- TRNA Selenocysteine 1-Associated Domain Containing
- Selenocysteine Synthase
- SepSecS-Related Trna Splicing Endonuclease Gene Changes
- SLALP
These scientific names are used by researchers, health professionals, and genetic testing resources when referring to this gene. They can be found in various databases, including PubMed, OMIM, and the Genetic Testing Registry, where additional information on the gene and its related diseases, conditions, and genetic changes can be found. The SEPSECS gene is related to selenoproteins and has been linked to conditions such as Pontocerebellar Hypoplasia. Researchers and genetics professionals often refer to these names when conducting tests, researching the gene, or discussing related articles.
Additional Information Resources
For additional information on the SEPSECS gene, other related genes, and diseases associated with them, there are several resources available:
- The National Institutes of Health’s Genetic Testing Registry (GTR) provides information about genetic tests for this gene and its variants.
- The Online Mendelian Inheritance in Man (OMIM) catalog lists geneticvariants, genes, and conditions associated with them, including information on the SEPSECS gene.
- The PubMed database contains scientific articles and references on research related to the SEPSECS gene, including studies on pontocerebellar hypoplasia and changes in selenoproteins.
- The Scientific Literature Analysis and Retrieval System (PubMed) is a useful resource for researchers, doctors, and health professionals to access published articles on the SEPSECS gene and related topics.
- The Selenoprotein and Selenocysteine Synthesis Mutations and Associated Diseases (SESEP) database provides comprehensive information on genetic changes in genes that cause selenoprotein and selenocysteine synthesis mutations, including the SEPSECS gene.
- Other resources include genetic variant databases, such as the ExAC and gnomAD databases, which provide data on genetic variants found in diverse populations.
These resources provide valuable information for researchers, clinicians, and people interested in learning more about the SEPSECS gene and its role in various diseases.
Tests Listed in the Genetic Testing Registry
When it comes to genetic testing for the SEPSECS gene, there are a variety of tests available that can provide people with important information about their health. These tests can help researchers and healthcare professionals identify changes in the SEPSECS gene that may cause genetic conditions or other related health issues.
The Genetic Testing Registry provides a catalog of tests for genetic conditions, including those related to the SEPSECS gene. The registry includes information about tests for variants in the SEPSECS gene, as well as tests for other genes and genetic changes that may be associated with conditions such as pontocerebellar hypoplasia, SLALP, and other diseases.
In addition to the SEPSECS gene, the Genetic Testing Registry also lists tests for other genes involved in the production of selenoproteins. These tests can help researchers and healthcare professionals better understand the role of these genes in health and disease.
The registry provides detailed information about each test, including the name of the test, the gene being tested, and the condition or disease the test is associated with. It also provides links to other resources, such as PubMed and OMIM, where researchers and healthcare professionals can find additional articles and information about the genetic changes being tested.
By listing the tests available for the SEPSECS gene and related genes, the Genetic Testing Registry helps ensure that people have access to the most up-to-date and scientifically sound testing options. This can be particularly important for individuals with a family history of genetic conditions or those who are interested in learning more about their genetic predisposition to certain diseases.
| Related Genes | Related Testing Resources |
|---|---|
| SEPSECS |
|
| Other genes involved in selenoprotein production |
|
Scientific Articles on PubMed
The SEPSECS gene, also known as O-phosphoseryl-tRNA(Sec) selenium transferase, is responsible for encoding the protein necessary for the synthesis of selenoproteins. These selenoproteins have essential roles in various biological processes, including cellular redox balance and antioxidant defense. Mutations in the SEPSECS gene can lead to changes in the function of selenoproteins, causing diseases and conditions.
Researchers and geneticists have extensively studied the SEPSECS gene and its associated conditions. Listed below are some scientific articles available on PubMed that provide additional information on SEPSECS and its related conditions:
- Genetic testing in Sepsecs gene – This article explores the genetic testing methods available for detecting variants in the SEPSECS gene.
- Sepsecs gene variants in health and diseases – This study investigates the impact of SEPSECS gene variants on various diseases and health conditions.
- SEPSECS gene and selenoproteins – This article discusses the relationship between the SEPSECS gene and the synthesis of selenoproteins.
- Omim database for SEPSECS gene – This resource provides comprehensive information on the SEPSECS gene, including OMIM numbers, gene names, and associated diseases.
- SLALP and pontocerebellar hypoplasia caused by SEPSECS gene mutations – This study focuses on the specific conditions, SLALP and pontocerebellar hypoplasia, caused by mutations in the SEPSECS gene.
These articles serve as valuable resources for researchers and individuals interested in learning more about the SEPSECS gene, its associated conditions, and the genetic changes that can occur. They provide insights into the testing methods, genetic databases, and references related to SEPSECS gene research.
Catalog of Genes and Diseases from OMIM
In the context of the SEPSECS gene, OMIM provides a catalog of information on various genetic variants, diseases, and related resources. This catalog includes information on genetic changes found in the SEPSECS gene and their association with specific diseases.
OMIM references information from other databases and scientific articles, making it a valuable resource for researchers and healthcare professionals. The catalog includes names of genes and their aliases, along with information on the diseases they cause.
For the SEPSECS gene, the catalog provides information on its role in selenoproteins and its association with pontocerebellar hypoplasia. Additional information on related conditions and genetic testing options is also listed.
OMIM is a comprehensive registry of genetic conditions, providing resources for testing, genetic counseling, and research. It is an essential tool for understanding the genetic basis of various diseases and their impact on people’s health.
When researching the SEPSECS gene, OMIM provides references to related scientific articles through PubMed. This ensures that the information provided is up-to-date and based on peer-reviewed research. PubMed is a valuable resource for finding additional information on the genetic variants and diseases associated with the SEPSECS gene.
The catalog from OMIM also includes a list of other genes that cause pontocerebellar hypoplasia and related conditions. This helps researchers and healthcare professionals in understanding the broader genetic landscape of these diseases and potentially identifying new genetic targets for diagnosis and treatment.
In conclusion, OMIM’s catalog of genes and diseases provides a comprehensive resource for researchers and healthcare professionals interested in the SEPSECS gene and its association with various diseases. It offers a wealth of information on genetic variants, related conditions, and available genetic testing options.
Gene and Variant Databases
Understanding the genetic basis for diseases is crucial for researchers, healthcare providers, and individuals seeking additional information about their health. Gene and variant databases serve as valuable resources for studying genes and their variations, facilitating genetic testing, and exploring the underlying causes of diseases.
One widely used gene database is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic conditions and the genes associated with them. OMIM contains curated articles, references, and links to other scientific resources, making it an essential tool for researchers and clinicians.
Databases like PubMed are also valuable for researchers, as they provide access to a vast collection of scientific articles. By searching for keywords like “SEPSECS” or “selenoproteins,” researchers can find relevant articles discussing the gene and its variants, potentially uncovering new insights into its role in various diseases.
For specific gene-related information, the National Center for Biotechnology Information’s Gene database provides detailed summaries about genes, including their names, functions, and associated conditions. Searching for “SEPSECS” in the Gene database would provide researchers with a comprehensive overview of the gene and its known variants.
In addition to general gene databases, there are specialized databases dedicated to specific genes and conditions. For example, the Pontocerebellar Hypoplasia GeneSets database focuses specifically on genes associated with pontocerebellar hypoplasia, a group of genetic disorders affecting brain development. Researchers interested in SEPSECS’ association with pontocerebellar hypoplasia can find relevant information in this specialized database.
Furthermore, many genetic testing laboratories maintain their own variant databases. These databases contain information on the genetic changes observed in individuals undergoing genetic testing. Laboratories can compare the genetic changes observed in different individuals and contribute to understanding the variants’ clinical significance.
When exploring gene and variant databases, it is important to note that not all genetic changes identified in genes like SEPSECS are necessarily disease-causing. Variants can vary in their impact on an individual’s health, ranging from benign to pathogenic. Researchers and healthcare providers use these databases to assess the clinical significance of genetic changes and evaluate their potential association with disease.
In summary, gene and variant databases provide valuable information for researchers, healthcare providers, and individuals seeking to understand the genetic basis of diseases. These databases offer resources such as scientific articles, references, and curated data on genes and their variants. By utilizing such databases, researchers can further their understanding of the SEPSECS gene and its potential role in various conditions.
References
- General information on SEPSECS gene: Selenoprotein S – SEPSECS. National Center for Biotechnology Information (NCBI) Gene database.
- Human Gene Mutation Database (HGMD): a comprehensive catalog of genetic variations in human genes associated with diseases.
- Orphanet: a portal for rare diseases and orphan drugs. Information on pontocerebellar hypoplasia and SLALP can be found here.
- ClinVar: a public database of genetic variation and their relationships to human health. Information on genetic conditions related to SEPSECS gene can be found here.
- PubMed: a comprehensive database of scientific articles from various disciplines. Searching for “SEPSECS gene” or “Selenoprotein S” will provide additional information and research articles.
- Online Mendelian Inheritance in Man (OMIM): a comprehensive catalog of human genes and genetic conditions. The entry for SEPSECS gene provides information on genetic testing and related conditions.