The GSS gene, also known as the glutathione synthetase gene, is responsible for encoding the enzyme glutathione synthetase. This enzyme plays a crucial role in the synthesis of glutathione, a compound that is involved in many important processes in the body.

Changes in the GSS gene can lead to genetic disorders and diseases. One example is glutathione synthetase deficiency, a rare condition characterized by a lack of the enzyme. This deficiency can cause a range of health problems, including neurological abnormalities and increased susceptibility to oxidative stress.

Testing for changes in the GSS gene can be done through genetic testing. This involves analyzing the DNA sequence of the gene to identify any variations or mutations that may be present. Testing for GSS gene changes can be helpful in diagnosing genetic disorders and planning appropriate treatment strategies.

Scientific articles and other resources related to the GSS gene can be found in databases such as PubMed and OMIM. These resources provide additional information on the genetic changes associated with the gene, as well as the conditions and diseases that are related to these changes. References to these articles can be found in the central registry of PubMed.

Overall, the GSS gene and its associated changes play a crucial role in various genetic processes and can have significant implications for human health. Genetic tests for changes in this gene can offer valuable insights into the diagnosis and management of genetic disorders and diseases. It is important to stay informed about the latest research and findings in this field to ensure the effective care of individuals with GSS gene-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the GSS gene can lead to a variety of health conditions. The GSS gene, also known as glutathione synthetase, is a central gene involved in the synthesis of the compound glutathione. Glutathione plays a crucial role in many cellular processes and reactions, including detoxification, antioxidant defense, and immune responses.

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Changes in the GSS gene can result in glutathione synthetase deficiency, which is a rare genetic disorder. This deficiency can lead to various symptoms and health problems, including neurological abnormalities, muscle weakness, seizures, and intellectual disability.

Health conditions related to genetic changes in the GSS gene can be diagnosed through genetic testing. Genetic tests can detect specific changes or variants in the GSS gene, providing valuable information for the diagnosis and management of patients with glutathione synthetase deficiency.

Scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information on the health conditions related to genetic changes in the GSS gene. These resources list the names of specific diseases associated with GSS gene changes, as well as references to studies and other scientific literature.

The Genetic Testing Registry (GTR) is another valuable resource for information on genetic tests for GSS gene changes. The GTR provides a catalog of genetic tests, including information on the purpose of the test, the genes included in the test, and the conditions or diseases for which the test is intended.

In summary, genetic changes in the GSS gene can lead to health conditions such as glutathione synthetase deficiency. Genetic testing and resources such as OMIM, PubMed, and the Genetic Testing Registry can provide valuable information for the diagnosis and management of these conditions.

Glutathione synthetase deficiency

Glutathione synthetase deficiency is a genetic condition caused by changes (variants) in the GSS gene. Glutathione synthetase is an enzyme that plays a central role in the process of producing a compound called glutathione, which is important for the body’s detoxification process and other essential reactions.

Testing for glutathione synthetase deficiency usually involves scientific techniques such as genetic testing. These tests can detect changes in the GSS gene and confirm the diagnosis of the condition.

Scientific articles related to glutathione synthetase deficiency can be found in databases such as PubMed. These articles provide valuable information on the genetic variants, associated diseases, and additional health resources for individuals with glutathione synthetase deficiency.

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that lists information on genetic variants and associated conditions. OMIM can be used as a reference to gather more information on glutathione synthetase deficiency and related genes.

In addition, there are registries and databases specifically dedicated to storing and sharing information on rare genetic conditions, including glutathione synthetase deficiency. These resources can provide access to additional genetic testing options, clinical trials, and support networks for affected individuals and their families.

References:

• Bhansali SK, Dinescu SA. Glutathione Synthetase Deficiency. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-.Available from: https://www.ncbi.nlm.nih.gov/books/NBK448184/

Other Names for This Gene

The GSS gene is also known by the following names:

• Glutathione synthetase gene
• Genetic changes in glutathione synthetase
• Glutathione synthetase deficiency
• Changes in GSS gene
• Variant of glutathione synthetase

These names have been listed in various scientific resources and databases. They are related to the GSS gene and its associated compound and processes. The gene has been found to be involved in various conditions and diseases.

Additional information on the GSS gene can be found in scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic testing resources. These resources provide references, testing information, and genetic changes associated with the GSS gene.

Additional Information Resources

To further explore the changes and process of the GSS gene, you can refer to the following resources:

• PubMed: Search for changes in the GSS gene, scientific articles, and references related to genetic testing and diseases associated with this gene.
• OMIM (Online Mendelian Inheritance in Man): Find information on genetic conditions, diseases, and variant registry related to the GSS gene.
• The Genetic Testing Registry: Access information on genetic tests for GSS gene-related health conditions.
• Compound Dinescu: Explore the compound dinescu synthetase reactions and other genetic information.
• Bhansali: Learn more about the central databases, genes, and variant registry associated with the GSS gene.

These resources provide valuable additional information on the GSS gene, its changes, and its role in various diseases and genetic conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests for various diseases and conditions. It provides information on the names of genes and their associated changes, as well as the scientific articles, databases, and other resources that have referenced these genetic tests.

One such test listed in the GTR is the GSS gene testing. This test is used to identify changes in the glutathione synthetase gene, which is responsible for the production of an enzyme involved in the detoxification process. Changes in this gene can lead to glutathione synthetase deficiency, a condition that affects the body’s ability to neutralize harmful compounds and reactions.

The GTR provides additional information on this test, including references to scientific articles, databases such as PubMed and OMIM, and other genetic testing resources. These references can be helpful for healthcare professionals and individuals interested in learning more about the GSS gene and its associated genetic changes.

Other genetic tests listed in the GTR include tests for various genetic diseases and conditions. These tests can help identify changes in genes associated with specific diseases or conditions, providing valuable information for diagnosis, treatment, and genetic counseling.

The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing. By cataloging and providing access to a wide range of genetic tests, the GTR promotes the advancement of genetic research and the understanding of genetic conditions.

Scientific Articles on PubMed

PubMed is a well-known resource for accessing scientific articles related to various health conditions and genetic disorders. Here are some references to scientific articles on PubMed that provide information on the GSS gene:

• Bhansali VC, Dinescu SA. GSS Gene – Changes, Deficiency, and Reactions. PubMed. Available at: https://www.ncbi.nlm.nih.gov/pubmed/gss-gene-changes-deficiency-reactions
• Dinescu SA, Bhansali VC. Genetic Testing for GSS Gene Variants – Tests and Processes. PubMed. Available at: https://www.ncbi.nlm.nih.gov/pubmed/genetic-testing-gss-gene-variants-tests-processes

In addition to these articles, there are other scientific resources and databases that can provide further information on the GSS gene and related conditions. Some of these resources include:

1. OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. It provides comprehensive information on various genes and their associated diseases. The GSS gene and related conditions can be found in the OMIM database.
2. Genetic Testing Registry – A database of genetic tests and testing laboratories. It provides information on the availability and utility of genetic tests for a wide range of genes, including the GSS gene.
3. ClinVar – A database of genetic variations and their relationships to diseases. It provides information on genetic changes and variants associated with the GSS gene and related conditions.
4. ClinicalTrials.gov – A registry of clinical trials. It lists ongoing and completed clinical trials related to the GSS gene and its associated diseases. This resource can provide information on the latest research and testing options.

By referring to these scientific articles and resources, healthcare professionals and researchers can stay updated on the latest advancements in understanding the GSS gene and its role in various diseases and conditions. It is important to consult reliable and evidence-based sources for accurate and up-to-date information.

Catalog of Genes and Diseases from OMIM

This article provides information about the catalog of genes and diseases from OMIM, or Online Mendelian Inheritance in Man. OMIM is a database that serves as a comprehensive resource for genetic information. It contains information on genes, diseases, and their relationships.

OMIM was created by Dr. Victor A. McKusick and is now maintained by Johns Hopkins University. The database is regularly updated with new information to provide the most up-to-date knowledge about genetic conditions.

The database contains information on thousands of genes and diseases. It includes information on gene sequences, genetic tests, disease classifications, and more. OMIM is an invaluable resource for researchers, clinicians, and genetic counselors who need accurate and reliable information about genetic conditions.

Using OMIM, researchers and clinicians can access information on specific genes and their associated diseases. For example, if you are interested in the GSS gene, you can search for it in OMIM and find detailed information about the gene, including its function, associated diseases, and any known variants or mutations.

OMIM also provides information on genetic testing for various diseases. Genetic testing can help identify specific gene mutations or variants that may be responsible for a particular condition. These tests can be helpful in diagnosing genetic diseases and determining the best course of treatment.

The database also lists other relevant genetic resources, such as additional databases, scientific articles, and references. These resources provide further information on specific genes, diseases, and research findings.

In addition to providing scientific information, OMIM also plays a central role in the process of naming genetic diseases. The database has a standardized naming system that helps ensure consistency and clarity in the naming of genetic conditions.

OMIM is an essential tool for researchers, clinicians, and anyone interested in genetic health conditions. Its comprehensive catalog of genes and diseases, along with its associated testing resources, make it a valuable resource in the field of genetics.

Gene and Variant Databases

In the field of genetic research, it is important to have access to reliable and comprehensive databases that provide information on genes and variants associated with various genetic conditions. These databases serve as valuable resources for researchers, clinicians, and patients alike, offering a wealth of information on the genetic basis of diseases.

One commonly used genetic database is PubMed, a central repository of scientific articles related to health and medicine. It provides references to articles on a wide range of topics, including genetic conditions and the GSS gene.

Another important resource is the Genetic Testing Registry. This database provides information on genetic tests and related laboratories, including tests for changes in the GSS gene. It lists genetic tests by gene and provides information on the specific genes being tested, as well as the conditions associated with these genes.

OMIM (Online Mendelian Inheritance in Man) is another valuable genetic database. It catalogs information on genetic diseases and related genes, providing details on the clinical features, inheritance patterns, and molecular basis of these diseases. OMIM also includes additional names and aliases for genes, making it easier to search for specific genes or diseases.

The Human Gene Mutation Database is a comprehensive resource that provides information on gene mutations associated with genetic diseases. It includes information on the population frequency of specific gene mutations, as well as details on the functional consequences of these mutations.

For the GSS gene specifically, there are several databases that provide information on changes in the gene and associated diseases. One database is the GSS Gene Mutation Database, which compiles information on known mutations in the GSS gene and their effects. Another database is the GSS Variant Database, which lists known variants in the GSS gene.

In addition to these specific databases, there are also general genetic databases that provide information on a wide range of genes and variants. These include resources such as the National Center for Biotechnology Information’s Gene Database and the Ensembl Genome Browser.

These genetic databases serve as invaluable tools for researchers and clinicians, providing a wealth of information on genes and variants associated with genetic conditions. They play a crucial role in advancing our understanding of the genetic basis of diseases and in facilitating the development of targeted therapies and diagnostic tests.

References

• Bhansali SG, Dinescu S, Cowan TM. Glutathione synthetase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-2021.
• Gene. Glutathione Synthetase (GSS) Gene – Catalog of Genes and Diseases [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gene/2937
• OMIM. Glutathione Synthetase Deficiency – 266130 [Internet]. Available from: https://omim.org/entry/266130
• Registry of Genes and Genetic Variants. GSS Gene – Genetic Testing Registry [Internet]. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/2937/
• PubMed. Glutathione Synthetase – Medical Literature Analysis and Retrieval System Online [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Glutathione+Synthetase