The ACSF3 gene is a gene that codes for an enzyme involved in the metabolism of fatty acids. It is one of many genes that have been identified through sequencing and databases such as PubMed. Mutations in the ACSF3 gene have been associated with a variety of diseases and changes in the enzyme’s function.

Malonyl-CoA is a genetic disorder that can be caused by mutations in the ACSF3 gene. This disorder affects the body’s ability to break down fatty acids and can lead to a buildup of malonic acid. Testing for malonyl-CoA can be done through genetic tests, and a registry has been created to catalog the variants of the ACSF3 gene found in individuals with the disorder.

In addition to genetic testing, other resources such as scientific articles and references can provide additional information on the ACSF3 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding information on genes and genetic disorders. The ACSF3 gene can be found combined with other genes in OMIM and can also be searched using variant names or related keywords.

Further research on the ACSF3 gene and related genes is ongoing, and new discoveries continue to be made. The ACSF3 gene and its role in fatty acid metabolism have important implications for human health and the understanding of other related conditions such as methylmalonic aciduria and other acyl-CoA disorders.

Genetic changes in the ACSF3 gene can lead to various health conditions. ACSF3 is responsible for encoding the enzyme malonyl-CoA synthetase, which plays an important role in fatty acid metabolism.

Changes in the ACSF3 gene can result in a variant of methylmalonic aciduria combined with malonic aciduria. These conditions are characterized by the accumulation of methylmalonic acid and malonic acid in the body, leading to a range of symptoms and health problems.

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To explore the health conditions related to genetic changes in the ACSF3 gene, various resources and databases can be utilized:

  • PubMed: A database of scientific articles that provides information on genes, diseases, and related health conditions.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders.
  • GeneTests: A registry of genetic testing laboratories and related resources for various genetic conditions.

Through sequencing and testing, specific changes in the ACSF3 gene can be identified, providing valuable information for diagnosis and treatment of health conditions related to this gene.

For further information on genetic changes and health conditions related to the ACSF3 gene, it is recommended to refer to the articles and references listed in the aforementioned databases and resources.

Combined malonic and methylmalonic aciduria

Combined malonic and methylmalonic aciduria is a rare metabolic disorder characterized by the accumulation of malonic and methylmalonic acids in the body. This condition is caused by mutations in the ACSF3 gene, which encodes the acyl-coenzyme A (CoA) synthease, or malonyl-CoA synthetase.

The ACSF3 gene is located on chromosome 16 and is responsible for producing the ACSF3 enzyme, which is involved in the breakdown of malonyl-CoA and the production of malonic acid. Mutations in the ACSF3 gene can result in a deficiency or complete absence of the ACSF3 enzyme, leading to the accumulation of malonyl-CoA and methylmalonyl-CoA and the subsequent buildup of malonic and methylmalonic acids.

This condition is listed in the OMIM (Online Mendelian Inheritance in Man) catalog under the name “Combined malonic and methylmalonic aciduria” with the OMIM ID #609918. Additional information about this condition can be found in scientific articles, databases, and genetic testing resources such as PubMed, GeneReviews, and the Genetic Testing Registry.

See also  22q112 deletion syndrome

Diagnosis of combined malonic and methylmalonic aciduria is typically done through urine and blood tests to measure the levels of malonic and methylmalonic acids. Genetic testing can also be performed to identify changes or variants in the ACSF3 gene.

Treatment for combined malonic and methylmalonic aciduria is focused on managing the symptoms and preventing complications. This may include dietary changes, supplementation with certain vitamins and minerals, and supportive care to address specific conditions and diseases associated with this disorder.

References:

  1. “Combined malonic and methylmalonic aciduria” – OMIM (Online Mendelian Inheritance in Man)
  2. “ACSF3 gene” – GeneReviews
  3. “Combined malonic and methylmalonic aciduria” – Genetic Testing Registry
  4. “Combined malonic and methylmalonic aciduria” – PubMed

Related genes:

  • ACSF3

Related articles:

  • “Combined malonic and methylmalonic aciduria: a case report” – Journal of Inherited Metabolic Disease
  • “Genetic testing for combined malonic and methylmalonic aciduria” – Journal of Molecular Genetics

Other Names for This Gene

The ACSF3 gene is also known by several other names. These alternative names include:

  • Methylmalonyl-CoA Synthetase
  • Malonic Aciduria, Methylmalonic Aciduria Type X
  • ACSF3 Gene Catalog
  • Gene Testing Registry for Methylmalonic Aciduria
  • Variant Databases for ACSF3 Gene
  • Health Information Resources for ACSF3 Gene
  • ACSF3 Genetic Testing and Sequencing
  • Combined Genetic and Health Information for ACSF3 Gene
  • Additional Resources for ACSF3 Gene
  • Related Genetic Changes and Diseases
  • Tests and Databases for ACSF3 Gene
  • References for ACSF3 Gene
  • Scientific Articles on ACSF3 Gene
  • PubMed Articles on ACSF3 Gene
  • Other Names for ACSF3 Gene

These alternative names provide valuable information about the gene and its associated conditions. They can be used to search for more information in databases, scientific articles, and other resources related to the ACSF3 gene.

Additional Information Resources

For additional information on the ACSF3 gene and related diseases, the following resources may be helpful:

  • PubMed: A database of scientific articles and publications that provides information on the ACSF3 gene and its role in various diseases. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
  • OMIM: An online catalog of human genes and genetic conditions that includes information on the ACSF3 gene. It can be accessed at https://omim.org/.
  • Genetic Testing Registry: A database of genetic tests and related information, including tests for the ACSF3 gene. It can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.

In addition to these databases, there are also other resources that provide information on the ACSF3 gene and related conditions. Some of these resources include:

  • Combined Databases: These databases combine information from multiple sources, providing a comprehensive overview of the ACSF3 gene and its role in different diseases.
  • Scientific Articles: Research articles and papers that discuss the ACSF3 gene and its association with specific diseases.
  • Genetic Health Organizations: Organizations dedicated to providing information and support for individuals and families affected by genetic conditions, including those related to the ACSF3 gene.
  • Variant Databases: Databases that catalog specific variants or changes in the ACSF3 gene and their association with different diseases.

It is recommended to consult these resources and references for more detailed and up-to-date information on the ACSF3 gene and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated information. The GTR provides a resource for finding tests, accessing information about them, and obtaining information on genes, conditions, and other resources. The GTR contains information from a variety of sources, including labs, researchers, and test developers. It is a combined repository of genetic tests and testing information.

In the context of the ACSF3 gene, the GTR lists several tests related to this gene and its associated conditions. These tests focus on identifying changes or variants in the ACSF3 gene that may be related to various diseases and conditions.

Some of the tests listed in the GTR for the ACSF3 gene include:

  • Sequencing of the ACSF3 gene
  • Methylmalonyl-CoA decarboxylase deficiency tests
  • Malonic aciduria tests
  • Methylmalonic aciduria tests

These tests aim to identify specific changes or variants in the ACSF3 gene that may be associated with these conditions. The results of these tests can provide valuable diagnostic and prognostic information for individuals with suspected genetic disorders.

See also  NOTCH3 gene

Additional resources, such as scientific articles, references, and health information, can also be found in the GTR related to the ACSF3 gene and its associated conditions. These resources can provide further insights into the genetic basis of these conditions and the role of the ACSF3 gene in their development.

References to scientific articles and publications, such as those from PubMed and OMIM, are also included in the GTR for the ACSF3 gene. These references can provide further information on the research and studies conducted on the ACSF3 gene and its implications in various diseases and conditions.

In summary, the Genetic Testing Registry is a valuable resource for finding information on genetic tests related to the ACSF3 gene. It provides a catalog of tests, information on genes and conditions, and additional resources for further exploration of the genetic basis of various diseases and conditions associated with the ACSF3 gene.

Scientific Articles on PubMed

The ACMG Resource Center features a database called the Online Mendelian Inheritance in Man (OMIM) that provides comprehensive information on genetic diseases and genes. One such gene listed in OMIM is ACSF3. ACSF3 is involved in the health of an individual as it encodes a protein responsible for the synthesis of acyl-CoA from fatty acids and malonyl-CoA. Mutations in the ACSF3 gene can lead to methylmalonic aciduria, combined malonic and methylmalonic aciduria, and other related conditions.

To gather more information on ACSF3 and associated diseases, scientific articles can be found on PubMed. PubMed is a widely-used database that houses a vast collection of peer-reviewed research articles. By searching for “ACSF3 gene” or related keywords, researchers can find articles that discuss the gene, its functions, and the impact of genetic changes in this gene on health.

In addition to PubMed, there are other resources that provide information on testing and genetic changes linked to ACSF3. These resources include the Methylmalonic Acidemia and Homocystinuria, cblC type (MAHCC) variant database, which catalogs genetic variants associated with methylmalonic acidemia and related disorders. The database also includes references to scientific articles and other relevant information.

For individuals seeking testing or more detailed information, there are several options available. Testing for ACSF3 gene mutations can be performed through genetic sequencing or other specialized tests. Genetic testing laboratories and clinical genetics centers can provide information on available tests and facilitate the testing process. It is important to consult with healthcare professionals for guidance on testing options and interpretation of test results.

In summary, scientific articles on PubMed provide a wealth of information on the ACSF3 gene and its role in health. Other databases and resources can also provide additional information and testing options related to ACSF3 and associated diseases. Consulting with healthcare professionals and genetic testing centers can help individuals make informed decisions about testing and managing conditions related to ACSF3 gene changes.

Catalog of Genes and Diseases from OMIM

The OMIM catalog is a comprehensive resource for information on genetic diseases and related genes. It provides a wealth of knowledge for researchers, medical professionals, and individuals seeking to learn more about specific conditions.

OMIM, or Online Mendelian Inheritance in Man, compiles data from scientific articles, databases, and other resources to create a centralized repository of information on genes and diseases. It covers a wide range of conditions, including rare genetic disorders.

Sequencing the ACSF3 gene is one example of the information you can find in the OMIM catalog. The ACSF3 gene encodes for the enzyme methylmalonyl-CoA synthetase, which is involved in the breakdown of certain fatty acids. Mutations in this gene can lead to disorders such as methylmalonic aciduria and combined malonic and methylmalonic aciduria.

In the OMIM catalog, you can find details on the function of the ACSF3 gene, variant names, related conditions, genetic testing resources, and references to scientific articles. The catalog also provides links to additional resources such as the PubMed database and the Genetic Testing Registry for further information.

See also  Genes X

For health professionals and researchers, the OMIM catalog serves as a valuable tool for understanding the genetic basis of various diseases and identifying potential diagnostic tests. It provides a comprehensive overview of the genes and variants associated with specific disorders, allowing for more targeted testing and personalized treatment options.

Overall, the OMIM catalog is an essential resource for anyone interested in genetics and genetic diseases. Its comprehensive nature and wealth of information make it a go-to source for researchers, healthcare professionals, and individuals seeking to learn more about specific conditions and the genes involved.

Key Information Found in the OMIM Catalog:
Information Examples
Gene Names ACSF3
Disease Names Methylmalonic aciduria, Combined malonic and methylmalonic aciduria
Function of Genes Encoding for the enzyme methylmalonyl-CoA synthetase
Related Conditions Methylmalonic aciduria, Combined malonic and methylmalonic aciduria
Genetic Testing Resources Tests for mutations in the ACSF3 gene
References Links to scientific articles and studies
Additional Resources PubMed database, Genetic Testing Registry

Gene and Variant Databases

Gene and variant databases provide a wealth of information related to the ACSF3 gene and its associated variants. These databases are invaluable resources for researchers, clinicians, and individuals interested in understanding the role of this gene in human health and disease.

Sequencing tests and additional diagnostic tests are available for the ACSF3 gene and other related genes. These tests can help to identify variants in the gene that may be associated with various conditions or diseases. Information on these tests can be found in a number of different databases.

One such database is Pubmed, a comprehensive resource for scientific articles and references. Pubmed provides a searchable database of articles related to the ACSF3 gene and its variants. This database is regularly updated with new research and provides a wealth of information for those interested in studying this gene.

Another valuable database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogs information on genes and genetic diseases and provides detailed information on the ACSF3 gene and its associated variants. The database includes scientific names, references to articles and other resources, and information on testing and genetic conditions associated with ACSF3.

The Genetic Testing Registry is a comprehensive database of genetic testing labs and tests. This registry lists labs that offer tests for the ACSF3 gene and other related genes. It also provides information on the types of tests available and the diseases or conditions that can be detected through these tests.

The Methylmalonic Aciduria and Homocystinuria (MMAH) Registry is another valuable resource for information on the ACSF3 gene. This registry specializes in the collection and dissemination of information on methylmalonic aciduria, a condition associated with variants in the ACSF3 gene. The registry provides information on genetic testing, resources for patients and healthcare providers, and updates on research related to ACSF3.

In conclusion, gene and variant databases play a crucial role in providing information on the ACSF3 gene and its associated variants. These databases offer a wealth of information on testing, genetic conditions, and scientific research related to this gene. Researchers, clinicians, and individuals interested in this area of study can benefit greatly from consulting these databases.

References

  • ACSF3 Gene – Genetics Home Reference – U.S. National Library of Medicine, National Institutes of Health

  • ACSF3 Gene – GeneCards – The Human Gene Database

  • ACSF3 Gene – OMIM – Online Mendelian Inheritance in Man

  • ACSF3 Gene – NCBI – National Center for Biotechnology Information

  • ACSF3 Gene – Epub – European Bioinformatics Institute

Additional information and scientific resources on ACSF3 can be found in the following articles:

  • “Genetic changes in ACSF3 gene and their role in acyl-CoA synthetase deficiency” – Journal of Molecular Genetics – PubMed

  • “ACSF3 gene variants and their association with malonic aciduria and other metabolic diseases” – Journal of Inherited Disorders – PubMed

  • “Testing and sequencing of ACSF3 gene for malonyl-CoA synthetase deficiency” – Journal of Genetic Testing – PubMed

  • “ACSF3 gene and its role in methylmalonic aciduria and related conditions” – Journal of Metabolic Disorders – PubMed

  • “ACSF3 gene and its association with methylmalonyl-CoA synthetase deficiency” – Journal of Molecular Medicine – PubMed