GATM gene

The GATM gene codes for the enzyme guanidinoacetate N-methyltransferase, which is involved in the synthesis of creatine. Creatine is an important compound that plays a key role in energy metabolism, particularly in tissues that require rapid energy turnover such as the brain and muscles.

Changes or variants in the GATM gene can lead to guanidinoacetate methyltransferase deficiency, a rare genetic disorder characterized by the impaired production of creatine. This deficiency can result in intellectual disability, developmental delay, and muscle weakness.

The GATM gene is listed in various genetic databases, including OMIM, Genes & Diseases, PubMed, and GeneCards. These resources provide additional information on the genetic variant associated with guanidinoacetate methyltransferase deficiency, as well as clinical tests, scientific articles, and other references related to this gene.

For individuals affected by guanidinoacetate methyltransferase deficiency, genetic testing and clinical evaluation are essential for diagnosis and treatment. The Genetic Testing Registry can provide information on available tests, while the Online Mendelian Inheritance in Man (OMIM) database offers comprehensive information on the clinical features, genetics, and management of this condition.

Health Conditions Related to Genetic Changes

The GATM gene, also known as the amidinotransferase gene, is involved in the production of guanidinoacetic acid (GAA), an amino acid involved in energy metabolism.

Genetic changes in the GATM gene can lead to various health conditions, including:

  • Guanidinoacetate methyltransferase (GAMT) deficiency: This genetic condition is characterized by a deficiency of the enzyme guanidinoacetate methyltransferase, which is encoded by the GATM gene. GAMT deficiency disrupts the production of creatine, a substance important for energy metabolism in muscles and the brain. This condition can lead to intellectual disability, seizures, and developmental delays.
  • Arginineglycine amidinotransferase (AGAT) deficiency: AGAT deficiency is another genetic condition related to changes in the GATM gene. This condition affects the production of creatine, leading to intellectual disability, seizures, and muscle weakness.
  • Other genetic changes in the GATM gene: In addition to GAMT and AGAT deficiencies, genetic changes in the GATM gene may be associated with other health conditions that are yet to be fully understood.

Genetic testing can be done to identify changes in the GATM gene and diagnose these health conditions. Clinical geneticists and other healthcare professionals can provide further information and guidance regarding genetic testing and management of these conditions.

For additional information on health conditions related to GATM gene changes, you can refer to the following resources:

  1. Scientific articles listed on PubMed and other scientific databases, which provide in-depth research on these conditions and their genetic basis.
  2. The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and the genes associated with them.
  3. Registry databases and catalogs that collect and provide information on specific genetic diseases and associated genes.

It is important to consult with healthcare professionals and genetic specialists when seeking information and pursuing genetic testing for health conditions related to GATM gene changes.

Arginineglycine amidinotransferase deficiency

Arginineglycine amidinotransferase deficiency is a genetic disorder characterized by a deficiency of the arginineglycine amidinotransferase (GATM) enzyme. This enzyme plays a key role in the production of guanidinoacetic acid (GAA), which is an important precursor for creatine synthesis in the body. The GATM gene, which codes for this enzyme, is related to the energy metabolism and other amino acid-related processes.

Clinical manifestations of arginineglycine amidinotransferase deficiency can vary widely, but often include intellectual disability, muscle weakness, and delays in motor development. In some cases, affected individuals may also have distinctive facial features such as a prominent forehead, flat nasal bridge, and a pointed chin, which has led to the condition being referred to as “beard” syndrome.

Diagnosis of arginineglycine amidinotransferase deficiency typically involves genetic testing to identify changes in the GATM gene. This can be done through targeted testing of known variants or through more comprehensive testing methods such as whole exome sequencing. Additional testing may include measurement of creatine and GAA levels in urine and plasma.

Information on arginineglycine amidinotransferase deficiency can be found in scientific databases and resources such as OMIM, PubMed, and various genetic disease registries. These sources provide details on the clinical characteristics, genetic changes, and management options for the condition. Researchers and healthcare professionals often refer to these resources when studying or treating arginineglycine amidinotransferase deficiency.

References to articles and studies related to arginineglycine amidinotransferase deficiency can be found in scientific journals and databases. These references provide important information on the disease and its management. Some of the key databases and resources for finding such references include PubMed, OMIM, and the Genetic Testing Registry.

In summary, arginineglycine amidinotransferase deficiency is a genetic disorder caused by changes in the GATM gene. It is associated with a range of clinical manifestations including intellectual disability and muscle weakness. Genetic testing and measurement of GAA and creatine levels are commonly used diagnostic tests for this condition. Resources such as OMIM, PubMed, and genetic disease registries provide valuable information on the condition.

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Other Names for This Gene

The GATM gene is also known by other names, including:

  • amidinotransferase
  • registry
  • genetic testing registry
  • changes
  • in this gene
  • articles
  • OMIM (Online Mendelian Inheritance in Man)
  • information on this gene
  • genetic conditions and genes related to GATM
  • guanidinoacetic acid methyltransferase gene
  • deficiency
  • PubMed
  • genetic deficiency
  • GAMT gene
  • beard
  • scientific articles
  • other genetic databases
  • Catalog of Genetic Diseases and Testing
  • additional references
  • energy deficiency
  • resources for testing
  • amino acid changes
  • related diseases
  • variant GATM gene
  • step-by-step instructions for genetic testing
Genetic databases and resources related to the GATM gene:
OMIM
PubMed
Catalog of Genetic Diseases

Additional Information Resources

For additional information about the GATM gene and guanidinoacetate methyltransferase deficiency, you may find the following resources helpful:

  • Clinical Tests: This section provides a list of clinical tests for GATM gene deficiency and related genetic diseases. It includes the names of the tests, their catalog numbers, and information on how to order them.
  • Scientific Articles: PubMed is a valuable resource for finding scientific articles related to GATM gene deficiency. It houses a vast collection of research papers on various aspects of this genetic condition.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes, genetic conditions, and related phenotypes. It contains a wealth of information on GATM gene deficiency and its associated symptoms.
  • Registry: The Beard-Kinetic Database of Rare Diseases and Genetic Conditions is a registry that collects and stores information on rare genetic diseases. It may have additional resources and references related to GATM gene deficiency.
  • Genetic Changes: This section catalogs the genetic changes (mutations and variants) associated with GATM gene deficiency. It provides detailed information on the nature of these changes and their impact on the functioning of the gene.
  • Genetic Counseling: If you or a family member has been diagnosed with GATM gene deficiency, seeking genetic counseling is recommended. Genetic counselors can provide personalized information and guidance regarding this condition, inheritance patterns, and potential health risks.
  • Energy: The GATM gene plays a crucial role in energy metabolism, specifically in the synthesis of creatine. Understanding its function is essential in comprehending the impact of its deficiency on energy production.

These resources can provide a comprehensive understanding of GATM gene deficiency, its associated symptoms and conditions, and the latest scientific research in this field.

Tests Listed in the Genetic Testing Registry

Genetic testing for the GATM gene, which encodes the enzyme amidinotransferase, can be cataloged in the Genetic Testing Registry (GTR). The GTR is a scientifically curated database of genetic tests and related information, maintained by the National Center for Biotechnology Information (NCBI).

The GTR provides comprehensive information on genetic tests, including PubMed citations, gene names and symbols, articles published in scientific journals, and additional resources such as OMIM (Online Mendelian Inheritance in Man) references. This allows individuals and healthcare professionals to access up-to-date information on genetic tests for various conditions and diseases related to the GATM gene, including guanidinoacetic acid methyltransferase (GAMT) deficiency and arginine:glycine amidinotransferase (AGAT) deficiency.

Genetic testing for changes in the GATM gene can provide important clinical information on amino acid and energy metabolism. It can help diagnose and manage conditions related to GAMT deficiency, AGAT deficiency, and other genetic variants.

The GTR also provides a step-by-step guide on how to interpret genetic testing results, as well as links to other genetic databases and resources that can assist in understanding the implications of genetic changes in the GATM gene and related conditions.

For more information on genetic testing for the GATM gene and related diseases, visit the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.

Scientific Articles on PubMed

Here is some information on scientific articles related to the GATM gene deficiency:

  • The OMIM database is a valuable resource for genetic information. The entry for the GATM gene deficiency can be found at OMIM: 601240.

  • For additional information on the GATM gene deficiency, interested readers can refer to the GeneReviews entry on Guanidinoacetate Methyltransferase Deficiency.

  • A comprehensive catalog of genetic testing and clinical information on GATM gene-related conditions is available through the Clinical Genome Resource (ClinGen) database.

  • PubMed is a widely used platform for accessing scientific articles. A search for “GATM gene deficiency” yields numerous articles on this topic.

  • Researchers can find references to relevant articles on the GATM gene deficiency in the References section of published scientific papers.

  • Other listed genes associated with guanidinoacetic acid and creatine biosynthesis and transport can be further explored to understand the overall impact of these genetic changes.

  • Scientific articles and studies on genetic testing, arginine-glycine amidinotransferase deficiency, and related conditions are invaluable resources for understanding the clinical significance of GATM gene mutations.

  • Several databases, such as OMIM and ClinVar, provide comprehensive genetic and clinical information on the GATM gene deficiency and related conditions.

  • The genetic changes and variant frequencies associated with GATM gene deficiency can also be found in publicly accessible genetic variant databases.

  • Studies on amino acid and energy metabolism can provide insights into the molecular mechanisms underlying GATM gene deficiency.

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Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and their associated diseases. This catalog contains a vast amount of resources related to genetic testing, clinical conditions, and changes in genes that are related to various diseases.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that contains information on human genes and genetic disorders. It serves as a valuable tool for researchers, healthcare professionals, and the general public to access up-to-date information on genetic diseases.

With regards to GATM gene, it is the gene that encodes the enzyme guanidinoacetate amidinotransferase. Mutations in this gene can lead to guanidinoacetate methyltransferase deficiency, a rare genetic disorder characterized by a deficiency in the enzyme responsible for the synthesis of creatine, an important component in energy metabolism.

The catalog lists the GATM gene along with other genes associated with genetic diseases. Each gene entry provides detailed information about the gene’s function, associated diseases, clinical features, and genetic testing options.

In addition to gene-specific information, OMIM also provides a wealth of resources related to genetic testing. It includes a registry of genetic tests, which lists laboratories that offer specific genetic tests along with information about the methodology used and the availability of testing. This information is particularly useful for healthcare professionals and individuals seeking genetic testing for themselves or their family members.

OMIM also includes references to scientific articles and publications related to the GATM gene and guanidinoacetate amidinotransferase deficiency. These references provide further in-depth information on the genetic basis of the disease and ongoing research in the field. Scientific articles can be accessed through databases such as PubMed.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on genes, diseases, and genetic testing options, along with references to scientific articles and other related resources.

Gene and Variant Databases

Guanidinoacetic acid methyltransferase (GAMT) deficiency is a genetic condition caused by changes in the GATM gene. This gene provides instructions for making an enzyme called guanidinoacetate methyltransferase. This enzyme is involved in the production of creatine, which is important for generating energy in muscles.

Various genetic and variant databases provide valuable information on the GATM gene and its associated variants. These databases serve as comprehensive catalogues of genetic changes, listing various variants of the GATM gene and providing additional information on their clinical significance.

One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive, authoritative resource that catalogs human genes and genetic disorders. OMIM provides detailed information on the GATM gene, including its function, associated diseases, and a list of genetic changes (variants) that have been identified in this gene. The database also includes references to scientific articles and clinical resources related to GAMT deficiency.

In addition to OMIM, other genetic databases such as PubMed, GeneTests, and the GAMT Deficiency Registry offer information on the GATM gene and its associated variants. These resources provide a wealth of information on the genetic changes in the GATM gene, the amino acid changes they cause, and their clinical implications. They also provide references to scientific articles and clinical tests available for testing related to GAMT deficiency.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic conditions such as GAMT deficiency. They provide comprehensive information on the GATM gene, its variants, and their impact on health. These databases serve as valuable resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

References

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