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The ETFB gene, also known as Electron Transfer Flavoprotein Beta Subunit, is responsible for encoding a protein involved in the breakdown of fats and energy production in the body. Mutations in this gene can lead to various diseases and metabolic disorders.

Information on the ETFB gene can be found in scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information about the gene, its variants, and associated genetic conditions.

One specific condition related to mutations in the ETFB gene is Glutaric Acidemia Type II. This disorder is characterized by the deficiency of the enzyme involved in the dehydrogenation of fatty acids. Individuals with this condition may experience developmental delays, muscle weakness, and other symptoms.

Testing for mutations in the ETFB gene can be done through genetic testing laboratories. These tests can help diagnose and determine the specific genetic changes associated with Glutaric Acidemia Type II and other related conditions.

Additional resources, such as articles and references, can provide further information on the ETFB gene and its role in various diseases. These resources can be found in scientific publications, genetic databases, and other related sources.

This section provides information on health conditions associated with genetic changes in the ETBF gene.

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Glutaric Acidemia Type II (OMIM #231680)

Glutaric Acidemia Type II (GA2) is a rare genetic disorder characterized by the deficiency of the enzyme ETFB. The condition impairs the body’s ability to break down certain fats and convert them into energy.

GA2 can present with a wide range of symptoms and severity. Common symptoms may include muscle weakness, fatigue, poor growth, developmental delay, and neurological abnormalities.

Skovby Syndrome (OMIM #270950)

Skovby Syndrome is a specific type of GA2 caused by genetic variations in the ETFB gene. It is characterized by impaired enzyme function, leading to the accumulation of specific substances in the body and resulting in various symptoms.

Individuals with Skovby Syndrome may present with distinctive facial features, skeletal abnormalities, intellectual disability, and other health issues. The severity of symptoms can vary significantly.

Scientific Resources and Databases

For additional information on the genetic changes associated with these conditions, you can refer to the following scientific resources and databases:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genes, genetic conditions, and related scientific articles.
  • PubMed: PubMed is a database that contains a vast collection of scientific references and articles on various health conditions and genetic research.

Gene Testing and Genetic Counseling

To diagnose Glutaric Acidemia Type II and Skovby Syndrome, genetic testing can be performed to identify changes in the ETFB gene. Genetic counseling is also recommended for individuals and families affected by these conditions to understand the inheritance pattern and make informed decisions regarding family planning.

Registry and Patient Support Organizations

There are several patient support organizations and registries dedicated to providing information, resources, and support for individuals and families affected by Glutaric Acidemia Type II and Skovby Syndrome. These organizations can provide valuable guidance and connect individuals with essential resources.

References

  1. “Glutaric Acidemia Type II.” Genetics Home Reference, U.S. National Library of Medicine, 5 Jan. 2021, https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii.
  2. “Skovby Syndrome.” Genetics Home Reference, U.S. National Library of Medicine, 15 Dec. 2020, https://ghr.nlm.nih.gov/condition/skovby-syndrome.

Glutaric acidemia type II

Glutaric acidemia type II, also known as ETFB gene deficiency, is a rare genetic disorder. It is listed under various names such as electron transfer flavoprotein, beta polypeptide deficiency and Medium-chain acyl-CoA dehydrogenation, variant 1 in different databases and scientific resources.

This condition is caused by mutations in the ETFB gene. The ETFB gene provides instructions for making a protein that is involved in energy production from fats. When the ETFB gene is defective, it disrupts the normal functioning of the protein and leads to the accumulation of certain acids in the body, including glutaric acid. This buildup can cause a variety of health problems.

See also  DARS2 gene

Glutaric acidemia type II is one of the many types of diseases classified as a fatty acid oxidation disorder (FAOD). FAODs are a group of genetic conditions that interfere with the body’s ability to break down fats for energy.

Signs and symptoms of glutaric acidemia type II can vary widely. They may include muscle weakness, low blood sugar levels, vomiting, cardiac symptoms, and developmental delays. These symptoms may appear during infancy or childhood.

Diagnostic testing for glutaric acidemia type II usually involves blood and urine tests to measure the levels of certain acids. Genetic testing can also identify changes in the ETFB gene that are associated with the condition.

Treatment for glutaric acidemia type II primarily involves managing the symptoms and preventing complications. This may include a special diet, such as a low-fat and high-carbohydrate diet, and the use of specific medications. Regular monitoring and follow-up with healthcare providers are essential.

References and resources:

Other Names for This Gene

This gene is known by many other names. Some of the other names for this gene include:

  • ETFB gene
  • Electron transfer flavoprotein beta subunit gene
  • Electron transfer flavoprotein, beta polypeptide gene
  • Electron transfer flavoprotein beta subunit-like gene
  • ETFB
  • ETFB1
  • ACADTR
  • ACADVIB

These names may vary depending on the databases, resources, and articles you are referring to. Changes in gene names can occur as more information on the gene becomes available through scientific research and studies.

It is important to note that this gene is associated with certain health conditions and diseases. Some of these diseases include:

  • Glutaric acidemia type II
  • Multiple acyl-CoA dehydrogenation deficiency
  • Skovby syndrome

Testing for variants in the ETFB gene can be done to identify potential energy metabolism conditions or deficiencies. This can be helpful in diagnosing and managing these health conditions.

More information on the ETFB gene, its associated diseases, and testing for variants can be found in various databases and resources. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the REFeR (Registry of Genetic Diseases in Fats and Energy Metabolism) catalog.

Additional Information Resources

Here is a list of resources for more information about ETFB gene deficiency and related conditions:

  • Skovby Syndrome Registry: A database of information and resources related to Skovby syndrome, which is caused by ETFB gene deficiency. The registry provides information on clinical symptoms, genetic testing, and available treatments.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the ETFB gene and its role in different types of diseases.
  • PubMed: A database of scientific articles and research papers. Searching for “ETFB gene deficiency” or related terms will provide you with a wealth of information on this topic.
  • Genetic Testing: Various laboratories offer genetic testing for ETFB gene deficiency. These tests can help diagnose the condition and determine the specific genetic variant causing the disease.
  • Energy and Fats Changes Gene Catalog: This catalog lists genes related to the metabolism of energy and fats. It includes information on the ETFB gene and its role in fatty acid dehydrogenation.
  • Other Databases: There are several other genetic databases and registries that may contain information on ETFB gene deficiency. These resources can provide additional insight into the condition and its management.

In addition to these resources, it is recommended to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and related information. The GTR catalog includes a variety of tests related to the ETFB gene, which is associated with Glutaric acidemia type II. These tests are designed to identify changes or variants in the ETFB gene that may be responsible for the deficiency in energy metabolism.

See also  FBLN5 gene

Tests listed in the GTR provide scientific and clinical information on different types of tests available for the ETFB gene. This information includes the names of the tests, their purpose, and the conditions or diseases they are used to diagnose.

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

  • Glutaric acidemia type II
  • ETF deficiency
  • Energy transfer factor beta deficiency

In addition to the tests listed in the GTR, there are other resources available for information on genetic testing for the ETFB gene. These resources include databases such as OMIM, which provide detailed information on genes, genetic diseases, and related topics.

The GTR also provides links to articles and references on genetic testing for the ETFB gene. These articles and references can be found in PubMed, a database of biomedical literature.

Additional Resources:

  • Genetic Testing Registry (GTR): The GTR is a centralized database of genetic tests and related information. It provides a comprehensive catalog of tests for various genes and genetic conditions. Visit the GTR website for more information.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a database of human genes and genetic disorders. It provides detailed information on genes, genetic diseases, and related topics. Visit the OMIM website for more information.
  • PubMed: PubMed is a database of biomedical literature. It provides access to millions of articles and references on various topics, including genetic testing and related fields. Visit the PubMed website for more information.

These resources can be used to gather more information on genetic testing for the ETFB gene, Glutaric acidemia type II, and related conditions. They can serve as valuable tools for healthcare professionals, researchers, and individuals interested in learning more about genetic testing and its impact on health.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles in the field of health and related areas. It provides a platform for researchers and scientists to search for and access a wide range of research papers and publications. PubMed is a valuable resource for staying up to date with the latest changes and advancements in medical research.

When searching for information related to the ETFB gene, one can find numerous articles and studies on PubMed. The ETFB gene is associated with Glutaric Acidemia Type II, which is a rare genetic disorder. Many scientific articles have been published on this topic, exploring various aspects of the gene and its related diseases.

PubMed provides a wealth of information on the ETFB gene and related conditions. The database contains articles that discuss the genetic basis of Glutaric Acidemia Type II, the specific gene variant associated with the condition, and the biochemical changes and metabolic deficiencies that result from the gene’s deficiency.

In addition to scientific articles, PubMed also provides references to other resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that catalogues information on genetic diseases and related genes. It includes information on Glutaric Acidemia Type II and other conditions listed in the context of the ETFB gene.

Researchers and scientists can use PubMed to access articles that discuss diagnostic testing for Glutaric Acidemia Type II and other related conditions. These articles provide information on the specific tests used to identify the gene variant and confirm the diagnosis of the disease. They also discuss the clinical features and patient outcomes associated with the condition.

Studies on the ETFB gene and Glutaric Acidemia Type II have contributed to a better understanding of the metabolic pathways and energy production in the body. These articles shed light on the role of the gene in the breakdown of fats and other energy sources.

Overall, the scientific articles available on PubMed provide valuable insights into the ETFB gene and its association with Glutaric Acidemia Type II. Researchers and healthcare professionals can utilize these resources to stay updated on the latest advancements in the field and improve patient care.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genes and diseases. It serves as a catalog of genes associated with various genetic conditions.

See also  Glucose phosphate isomerase deficiency

One of the genes listed in the OMIM database is ETFB. ETBF gene is also known as electron-transfer-flavoprotein beta subunit gene. Mutations in this gene are associated with different diseases, such as Skovby type of glutaric acidemia II and electron transfer flavoprotein-ubiquinone oxidoreductase deficiency. These genetic changes can lead to energy metabolism abnormalities and affect the body’s ability to properly process fats and certain amino acids.

The OMIM database provides a wealth of information on the ETFB gene and its related diseases. It includes scientific articles, genetic testing resources, and references to other databases. Researchers and healthcare professionals can access information on the genetic variant names, the specific changes in the gene, and additional information on the associated conditions.

For individuals seeking information on genetic testing and diagnosis, the OMIM database can be a valuable resource. It provides details on available genetic tests for the ETFB gene, as well as information on testing laboratories and registries that specialize in these conditions.

In addition to the ETFB gene, the OMIM catalog includes information on numerous other genes and their associated diseases. The database serves as a centralized resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

Overall, the OMIM database is a valuable tool in the field of genetics. It provides a comprehensive catalog of genes and diseases, helping to facilitate research, diagnosis, and treatment of various genetic conditions.

Gene and Variant Databases

When it comes to understanding a gene and its variants, there are various databases that provide valuable information. These databases contain essential information related to genes, variants, and their association with health and diseases.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the genetic basis of various diseases, including ETFA, ETFB, and ETFDH genes related to glutaric acidemia type II (GA2) and multiple acyl-CoA dehydrogenation deficiency (MADD).

In addition to OMIM, there are other resources like PubMed that offer scientific articles and references on genes, variants, and their impact on health. These resources are essential for researchers and healthcare professionals looking to stay updated with the latest information and research findings.

Gene and variant databases play a crucial role in genetic testing and diagnosis. They provide a platform to search for specific genes, view their associated variants, and understand their role in certain conditions. The databases also assist in identifying changes in genes and variants that may lead to disease development.

Furthermore, these databases offer additional resources such as genetic testing laboratories, clinical trials, and patient registries for specific genes or genetic conditions. They serve as a centralized hub for all the available information on genes, variants, and related health conditions.

It is important for researchers, healthcare providers, and individuals interested in genetics to utilize these databases to access reliable and up-to-date information. A comprehensive understanding of genes and their variants contributes to better diagnosis, treatment, and management of genetic disorders.

Summary of Gene and Variant Databases
Database Name Description
OMIM Catalog of human genes and genetic conditions.
PubMed Scientific articles and references on genes and variants.

References

  • – OMIM: Online Mendelian Inheritance in Man. This is a catalog of human genes and genetic disorders. Visit the OMIM database to find more information on the ETFB gene and its related conditions.
  • – PubMed: A database of scientific articles in the field of biomedical sciences. Use PubMed to access articles that discuss the ETFB gene, its variants, and related disorders.
  • – GeneTests: A resource for information on genetic tests and available testing laboratories. Visit GeneTests for information on ETFB gene testing for Glutaric Acidemia Type II and other related conditions.
  • – GeneCards: A searchable database of human genes and their related resources. Look up ETFB gene to find additional information on its function, its role in energy dehydrogenation, and its links to other genes.
  • – HGNC: The HUGO Gene Nomenclature Committee. Find official gene names and symbol for ETFB and other human genes on the HGNC website.
  • – Glutaric Acidemia Type II: Skovby F. Glutaric Acidemia Type II: A Review. J Inherit Metab Dis. 2004;27(6): 739-748. Read this scientific article for more information on Glutaric Acidemia Type II, a condition caused by ETFB deficiency.

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