The MAT1A gene is a gene that is responsible for encoding the methionine adenosyltransferase 1A enzyme. This enzyme is involved in the synthesis of S-adenosylmethionine (AdoMet), which is a critical molecule involved in various metabolic processes in the body.
Changes or mutations in the MAT1A gene can lead to a condition called hypermethioninemia, a rare genetic disorder characterized by elevated levels of methionine in the blood. This condition can have various health implications and may be associated with other related diseases or conditions.
The MAT1A gene is listed in various scientific databases and resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and the Genetic Testing Registry. These resources provide additional information on the gene, its variants, associated diseases or conditions, and references to scientific articles.
Testing for mutations in the MAT1A gene can be helpful in diagnosing hypermethioninemia or other conditions related to this gene. Genetic testing can provide valuable information for medical professionals and individuals seeking to understand their genetic health risks or to make informed decisions about their healthcare.
Health Conditions Related to Genetic Changes
Genetic changes in the MAT1A gene can lead to various health conditions. These changes can occur in different forms, including mutations, variants, and changes in gene expression. Here are some health conditions related to genetic changes in the MAT1A gene:
- Hypermethioninemia: Genetic changes in the MAT1A gene can cause hypermethioninemia, which is a condition characterized by elevated levels of methionine in the blood.
- MATI deficiency: Deficiency or dysfunction of the MAT1A gene can result in MATI deficiency, a condition where the body cannot produce enough S-adenosylmethionine (AdoMet), an essential compound involved in various cellular processes.
These health conditions and related genetic changes have been extensively studied and documented. Scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man) provide comprehensive information, articles, and references on genetic changes in the MAT1A gene and their association with these health conditions.
Genetic testing is available to identify genetic changes in the MAT1A gene. These tests can help diagnose and manage the health conditions mentioned above. Genetic testing may involve analyzing DNA samples to detect mutations, variants, or changes in gene expression associated with the MAT1A gene.
In addition to genetic testing, resources such as the MAT1A Gene catalog and the Hypermethioninemia MATI-ADOMET I Metabolic Gene Mutation Registry provide further information and support for individuals and families affected by these genetic changes. These resources offer additional information on the genetic changes, associated health conditions, available treatments, and ongoing research efforts.
It is important for individuals and healthcare providers to stay updated with the latest scientific and medical advancements in this field. Regularly consulting reputable sources, such as scientific journals, peer-reviewed articles, and trusted genetic databases, can provide valuable insights into the relationship between genetic changes in the MAT1A gene and the associated health conditions.
Hypermethioninemia
Hypermethioninemia is a condition characterized by elevated levels of methionine, an amino acid, in the blood. This condition can be caused by mutations in the MAT1A gene, as well as mutations in other genes involved in methionine metabolism. Genetic testing can be used to identify these mutations and diagnose the condition.
This genetic condition has several additional forms and related conditions, each with its own variant of the disease. Health professionals can access information on these different forms and related conditions from resources such as the OMIM database, PubMed articles, and the Genetic Testing Registry.
The MAT1A gene is responsible for producing the enzyme adenosylmethionine (AdoMet), which is involved in methionine metabolism. Mutations in this gene can disrupt the production of AdoMet, leading to elevated levels of methionine in the blood.
Testing for hypermethioninemia can involve analyzing the levels of methionine in a person’s blood, as well as performing genetic testing to identify any mutations in the MAT1A gene or other relevant genes.
For more information on hypermethioninemia, genetic testing, and related conditions, health professionals can refer to the Genetic Testing Registry, OMIM database, PubMed articles, and other scientific references.
| Database | Description | Website |
|---|---|---|
| Genetic Testing Registry | Provides information on genetic tests for hypermethioninemia | https://www.ncbi.nlm.nih.gov/gtr/ |
| OMIM | Contains information on diseases and related genes | https://omim.org/ |
| PubMed | Provides scientific articles on hypermethioninemia | https://pubmed.ncbi.nlm.nih.gov/ |
Other Names for This Gene
The MAT1A gene is also known by the following names:
- MATI
- S-adenosylmethionine synthase isoform type-1
- AdoMet synthase 1
- MAT-1
- methionine adenosyltransferase I, alpha polypeptide
These other names may be used interchangeably with MAT1A gene in scientific articles, databases, and resources. They provide additional information and references related to the gene and its various forms, mutations, and genetic changes. OMIM, Pubmed, and other genetic testing databases and registries may list the gene under these alternative names.
Additional Information Resources
- Genetic Testing: There are several tests available for the MAT1A gene, including DNA sequencing and mutation analysis to detect changes or mutations in the gene associated with genetic diseases.
- Hypermethioninemia: MAT1A gene mutations can cause hypermethioninemia, a condition characterized by elevated levels of methionine in the blood. Testing for hypermethioninemia can help diagnose the condition and guide treatment options.
- Forms of MAT1A gene: The MAT1A gene has different forms, which can vary in their functions and expression levels. Understanding these different forms can provide valuable insights into the role of the gene in various biological processes.
- Catalog of other genetic variants: There are several databases available that catalog other genetic variants in the MAT1A gene. These databases provide additional scientific information and references for studying the gene and its associated conditions.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and their related articles. It can be a valuable resource for finding more information on the MAT1A gene and its associated disorders.
- PubMed: PubMed is a comprehensive database of scientific articles and publications. Searching for the MAT1A gene on PubMed can provide access to research papers and studies related to the gene and its functions.
- Gene-related health conditions: The MAT1A gene is associated with various health conditions. Understanding these conditions and their genetic basis can help in identifying potential treatment options or preventive measures.
- Genetic testing registries: There are registries available that provide information on genetic testing for specific genes, including the MAT1A gene. These registries can help individuals find relevant testing options and connect with healthcare professionals specializing in genetic testing.
- ADOMET: S-adenosylmethionine (ADOMET) is an essential molecule involved in numerous biochemical reactions. The MAT1A gene plays a crucial role in the production of ADOMET, and studying the gene can provide insights into its function and regulation.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of health conditions. In the context of the MAT1A gene, the GTR lists several tests related to hypermethioninemia, a condition caused by changes in the MAT1A gene.
The GTR lists the following tests for the MAT1A gene:
- Test 1: This test detects mutations in the MAT1A gene that are associated with hypermethioninemia. It analyzes the DNA sequence of the gene to identify any changes or variations.
- Test 2: This test measures the levels of S-adenosylmethionine (SAM) in the blood. SAM is a molecule produced by the MAT1A gene, and changes in its levels can indicate problems with the gene.
- Test 3: This test assesses the activity of the MAT1A gene by measuring the production of adenosylhomocysteine (AdoHcy) in the blood. AdoHcy is a byproduct of the SAM production process.
- Test 4: This test examines the biochemical characteristics of the MAT1A gene. It looks for specific forms and changes in the gene that are linked to hypermethioninemia.
In addition to these tests, the GTR provides additional information about the MAT1A gene, including scientific references, articles, and other databases where more information can be found. These resources include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and other genetic testing databases.
By listing these tests and additional references, the GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing for hypermethioninemia and related conditions.
| Test | Description |
|---|---|
| Test 1 | This test detects mutations in the MAT1A gene that are associated with hypermethioninemia. It analyzes the DNA sequence of the gene to identify any changes or variations. |
| Test 2 | This test measures the levels of S-adenosylmethionine (SAM) in the blood. SAM is a molecule produced by the MAT1A gene, and changes in its levels can indicate problems with the gene. |
| Test 3 | This test assesses the activity of the MAT1A gene by measuring the production of adenosylhomocysteine (AdoHcy) in the blood. AdoHcy is a byproduct of the SAM production process. |
| Test 4 | This test examines the biochemical characteristics of the MAT1A gene. It looks for specific forms and changes in the gene that are linked to hypermethioninemia. |
Scientific Articles on PubMed
PubMed is a widely-used resource for accessing scientific articles related to genetic information, diseases, and other health-related topics. It provides a vast catalog of articles and references from various databases. For those seeking information on the MAT1A gene and its related variants, PubMed is a valuable tool for finding relevant research.
- PubMed contains articles on the MAT1A gene, its mutations, and related forms of genetic testing.
- Research on the MAT1A gene can provide insights into various conditions, such as hypermethioninemia and other diseases.
- Additional resources on PubMed include the Online Mendelian Inheritance in Man (OMIM) database, which lists genetic conditions associated with the MAT1A gene.
- The registry of genetic tests can also be accessed through PubMed, offering information on available tests for specific genes and conditions.
- PubMed can help researchers and healthcare professionals stay up-to-date with the latest advancements in the field of genetics and MAT1A-related research.
By using PubMed, researchers can access a wealth of scientific articles and information on the MAT1A gene and its related variants. This resource is invaluable for those seeking to understand the genetic basis of certain conditions and explore potential diagnostic and treatment options.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic mutations and associated diseases. It contains information on various genes and the conditions they are linked to, including the MAT1A gene.
The MAT1A gene is responsible for encoding the enzyme methionine adenosyltransferase 1A (MAT I/III). Changes or mutations in this gene can lead to hypermethioninemia, a genetic condition characterized by elevated levels of methionine in the blood.
OMIM provides detailed references and articles on the genetic variants and associated diseases. It lists scientific articles from PubMed and other reputable sources as references. These articles provide additional information on the MAT1A gene, its variants, and related conditions.
In addition to OMIM, there are other databases and resources available for genetic testing and information. These resources include the Genetic Testing Registry (GTR) which provides information on various genetic tests available for different genes and diseases. Other databases like AdoMetDB provide information on the forms and functions of s-adenosylmethionine (AdoMet), a molecule involved in methionine metabolism.
Individuals with suspected MAT1A gene mutations or hypermethioninemia can undergo genetic testing to confirm the diagnosis. These tests may include sequencing the MAT1A gene to identify any changes or mutations. Health professionals can consult OMIM and other resources to access relevant information on the MAT1A gene, hypermethioninemia, and related conditions.
In summary, OMIM provides a valuable catalog of genes, including the MAT1A gene, and associated diseases. It references scientific articles and other reputable sources for additional information on genetic variants and related conditions. Other resources and databases are also available for genetic testing and information.
Gene and Variant Databases
Scientific databases provide a wealth of information on genetic mutations and their associated conditions. Gene and variant databases are valuable resources that catalog and provide information on changes in genes, their forms, and their impact on health.
One such database is the Online Mendelian Inheritance in Man (OMIM), which lists genetic diseases and related genes. OMIM offers a comprehensive catalog of genetic variants and associated conditions. Researchers can find references to articles and studies on specific genes and their mutations on OMIM.
Another database, the Genetic Testing Registry (GTR), provides information about genetic tests offered for specific genes. The GTR allows users to search for tests related to a specific gene, providing names of laboratories that offer testing and additional resources.
The Catalog of Somatic Mutations in Cancer (COSMIC) is a database that focuses on genetic mutations found in various forms of cancer. It provides a comprehensive catalog of somatic mutations in cancer genes and offers additional information such as associated publications and the functional impact of specific mutations.
One specific gene, the MAT1A gene, is associated with hypermethioninemia, a condition characterized by elevated levels of methionine in the blood. The MAT1A gene provides instructions for making an enzyme called S-adenosylmethionine (SAMe), which is involved in various biochemical reactions in the body.
These databases and others play crucial roles in providing essential information on genetic variants and their impact on health. They serve as valuable resources for researchers, clinicians, and individuals seeking information on genetic conditions and testing options.
References
- Variant testing for the MAT1A gene: provides health-related information on genetic changes in the MAT1A gene, including mutations and variants. This resource lists the different forms of tests available for MAT1A gene testing.
- AdoMet and genetics: this resource provides scientific articles and additional information on genetics and S-adenosylmethionine (AdoMet). It includes resources such as PubMed and other databases where relevant articles can be found.
- OMIM database: the Online Mendelian Inheritance in Man (OMIM) database provides information on genes and genetic conditions. It contains information on the MAT1A gene and related conditions.
- Genetic Testing Registry: this resource provides information on genetic tests, including those related to the MAT1A gene. It includes information on the purpose of the test, the genes analyzed, and the conditions tested for.
- Catalog of genetic variants: this resource lists genetic variants and their associated information. It includes changes in the MAT1A gene and other genes related to hypermethioninemia.