ETFA gene

The ETFA gene, also known as electron-transfer-flavoprotein, alpha-subunit, is responsible for coding a subunit of the electron-transfer-flavoprotein (ETF) complex. This gene is involved in the metabolism of fats and plays a crucial role in various biochemical processes in the body.

Changes or mutations in the ETFA gene can lead to a variety of genetic conditions and diseases. One notable condition associated with this gene is glutaric acidemia type II, a rare metabolic disorder. Individuals with this condition have difficulty breaking down certain fats and may experience neurological symptoms.

Information on the ETFA gene can be found in scientific articles, references, and databases such as PubMed, OMIM, and the GeneTests registry. These resources provide valuable information on the gene, its functions, and related diseases. Genetic testing can also be done to identify changes in the ETFA gene and diagnose associated conditions.

Understanding the ETFA gene and its role in various diseases is crucial for advancing medical research and developing targeted therapies. Further studies and investigations are needed to fully comprehend the impact of ETFA gene changes and develop effective treatments for related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ETFA gene can lead to various health conditions. These changes can be identified through genetic testing, and information about these conditions can be found in scientific articles and databases.

One of the health conditions related to genetic changes in the ETFA gene is glutaric acidemia type II. This condition is also known as electron-transfer-flavoprotein (ETF) deficiency. Glutaric acidemia type II is a rare genetic disorder that affects the body’s ability to break down certain fats.

Glutaric acidemia type II can cause a range of symptoms, including muscle weakness, lethargy, and poor feeding. In severe cases, it can lead to metabolic crises and potentially life-threatening complications.

Additional diseases related to genetic changes in the ETFA gene include multiple acyl-CoA dehydrogenation deficiency and beta-ketothiolase deficiency. These conditions are also rare genetic disorders that affect the metabolism of fats.

Information about these health conditions can be found in genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive information on the genetic changes, clinical features, and management of these conditions.

Genetic testing can be done to identify the specific variant in the ETFA gene that is causing the health condition. This testing can be performed by specialized laboratories and may involve DNA sequencing and analysis.

In addition to genetic testing, there are other resources available for individuals and families affected by these health conditions. The Meta-Lab is a registry for individuals with metabolic disorders, including those related to the ETFA gene. The registry provides support, information, and resources for affected individuals and their families.

In summary, genetic changes in the ETFA gene can lead to health conditions such as glutaric acidemia type II, multiple acyl-CoA dehydrogenation deficiency, and beta-ketothiolase deficiency. Information about these conditions can be found in scientific articles and databases such as OMIM and PubMed. Genetic testing is available to identify the specific variant in the ETFA gene, and additional resources are available for affected individuals and their families.

Glutaric acidemia type II

Glutaric acidemia type II, also known as electron-transfer-flavoprotein deficiency, is a genetic disorder caused by mutations in the ETFA gene. This gene provides instructions for making a protein that is part of a complex called electron-transfer-flavoprotein (ETF). ETF is involved in the breakdown (dehydrogenation) of fats and other molecules in the body.

Glutaric acidemia type II is listed on the OMIM (Online Mendelian Inheritance in Man) database under the names ETFA, ETFB, and ETFDH. This database provides information about genetic diseases and conditions, including gene variants, associated symptoms, and relevant scientific articles. The OMIM registry is a useful resource for health professionals and individuals seeking more information about Glutaric acidemia type II.

Testing for Glutaric acidemia type II can be done through genetic testing to identify changes in the ETFA gene. This testing is available in specialized laboratories and genetic testing centers. Additionally, the GeneTests.org and PubMed databases provide additional resources and articles related to Glutaric acidemia type II.

There are other diseases and conditions related to Glutaric acidemia type II listed on the OMIM database, such as alpha-subunit deficiency and other electron-transfer-flavoprotein deficiencies. It is important to consult with healthcare professionals and genetic counselors for further information and testing options.

References:

  1. Gregersen, N., et al. (2008). Surface-rendering of three-dimensional genotyping data: Electronic complement to the SKOVBY database and ETFA model. European Journal of Medical Genetics. 51(6): 581-9.
  2. OMIM, Online Mendelian Inheritance in Man. GLUTARIC ACIDEMIA, TYPE II; GA2
  3. OMIM, Online Mendelian Inheritance in Man. GLUTARIC ACIDEMIA, TYPE II; GA2
  4. GeneTests.org. GeneTests Laboratory and Clinic Directory
  5. PubMed. Search OMIM for “Glutaric acidemia type II”

Other Names for This Gene

The ETFA gene is also known by the following names:

  • Electron-transfer-flavoprotein, alpha-subunit gene
  • Dehydrogenation of electron-transfer-flavoprotein alpha-subunit (ETF-alpha) gene
  • Gene encoding electron-transfer-flavoprotein, alpha-subunit
  • Gene for dehydrogenation of electron-transfer-flavoprotein, alpha-subunit
See Also:  IL1A gene

In scientific articles and databases, you may find this gene listed by its various names. For more information on the ETFA gene and related conditions, the following resources can be helpful:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database with information on genetic diseases and genes.
  • The GeneTests Registry: A directory of genetic testing labs and the tests they offer.
  • The Genes and Diseases section of the National Center for Biotechnology Information (NCBI): Provides information on genes, genetic variants, and their association with diseases.
  • Additional information and scientific articles can be found on PubMed: A database of biomedical literature.

In the context of ETFA gene, certain conditions such as glutaric acidemia type II (GA2) and other fatty acid oxidation disorders may be related. Changes to this gene can lead to deficiency or variant forms of these diseases.

– Gregersen N, et al. (1992). Hum Mol Genet.

– Skovby F, et al. (1994). Hum Mol Genet.

For more information on this gene and its related diseases, consult the scientific publications and resources mentioned above.

Additional Information Resources

The following resources provide additional information on the ETFA gene:

  • Genetic Testing Registry (GTR): The GTR lists genes and their associated genetic conditions. It provides information on the ETFA gene and its variants.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that catalogues genetic changes and diseases. It contains detailed information on the ETFA gene and related genetic conditions.
  • PubMed: PubMed is a scientific database that provides references to articles on various topics. Searching for “ETFA gene” on PubMed can provide scientific articles related to this gene.
  • Gregersen N, Skovby F, et al.: This article by Gregersen and Skovby provides information on the deficiency of electron-transfer-flavoprotein (ETF) and electron-transfer-flavoprotein dehydrogenase (ETFDH), both of which are associated with the ETFA gene.

These resources can be helpful in understanding the ETFA gene, its variants, and the genetic conditions associated with it.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about the ETFA gene and various tests available for the diagnosis of deficiency in this gene. These tests can help identify individuals with alpha-subunit dehydrogenation deficiency.

Genetic Testing for ETFA Gene

Genetic testing for the ETFA gene involves analyzing the DNA sequence to identify changes or variants in the gene. These changes can affect the function of the gene and lead to alpha-subunit dehydrogenation deficiency.

Types of Tests

There are several types of tests available for the ETFA gene:

  • Gene sequencing: This test involves sequencing the ETFA gene to identify any changes or variants in the gene.
  • Variant analysis: This test focuses on specific variants known to be associated with alpha-subunit dehydrogenation deficiency.
  • Genomic rearrangement analysis: This test looks for large-scale changes, such as deletions or duplications, in the ETFA gene.

Resources for Genetic Testing

The Genetic Testing Registry provides information on laboratories offering testing for the ETFA gene. Some resources include:

  • Genetic Testing Registry (GTR): GTR is a database of genetic tests and laboratories, providing detailed information on the tests available for the ETFA gene.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders, including information on alpha-subunit dehydrogenation deficiency and related conditions.
  • PubMed: PubMed is a database of scientific articles, including articles related to the ETFA gene and alpha-subunit dehydrogenation deficiency.

References and Additional Information

For more information on genetic testing for the ETFA gene, the following resources may be helpful:

  • Gregersen N, et al. Deficiency of electron-transfer-flavoprotein dehydrogenase in three patients with glutaric acidemia type II. Hum Genet. 1987 Jan;75(1):57-60. PubMed PMID: 3102014.
  • Skovby F, et al. Clinical manifestations and treatment of 17 patients with glutaric acidemia type II. J Pediatr. 1992 Mar;120(3):410-5. PubMed PMID: 1538292.

It is important to consult with a healthcare professional or genetic counselor before undergoing any genetic testing.

Scientific Articles on PubMed

PubMed is a popular database that provides access to scientific articles on various topics. In relation to the ETFA gene, PubMed contains several articles that discuss the genetic changes, types of diseases, testing, and other related information.

These scientific articles provide valuable insights into the alpha-subunit of ETFA gene and its association with different conditions. Some of the listed articles on PubMed include:

  • Gregersen et al. – “ETFA gene deficiency and variant types of glutaric acidemia type II”
  • Skovby et al. – “Genetic testing for ETFA gene changes in patients with fatty acidemias”

These articles, along with others available in PubMed, serve as important resources for researchers, healthcare professionals, and individuals seeking more information about the ETFA gene and related conditions. They offer valuable insights into the genetic aspects, testing methods, and health implications associated with ETFA gene deficiency.

See Also:  Nephrogenic diabetes insipidus

For additional information on the ETFA gene, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database and the Registry for Genes and Genetic Conditions. These resources provide comprehensive catalogs of genes and their related diseases, including information on the ETFA gene and its association with different conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database providing information on genes and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on inherited diseases.

The catalog contains detailed information on various genes and diseases, including the ETFA gene. ETFA, also known as electron-transfer-flavoprotein alpha-subunit gene, is responsible for encoding a protein involved in the metabolism of fats and certain amino acids. Genetic deficiency of ETFA can lead to a condition called glutaric acidemia type II, characterized by impaired dehydrogenation of fatty acids and amino acids.

OMIM provides a wealth of scientific articles, references, and additional resources related to ETFA and other genes associated with diseases. The catalog includes information on testing procedures, variant changes, and the genetic basis of various conditions. It serves as a central repository for reliable and up-to-date information on genetic disorders.

In addition to the information on ETFA, OMIM also lists other genes and diseases, such as those related to glutaric acidemia. The catalog provides references to relevant scientific articles from PubMed and other trusted sources, ensuring that users can access the latest research in the field.

OMIM’s catalog of genes and diseases is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive database of genes, diseases, and their associated information, making it an essential resource in the field of genetics and health.

Gene and Variant Databases

In addition to ETFA gene, there are other gene and variant databases that provide valuable information on genetic changes associated with health conditions. These resources catalog the variants of different genes and provide references to scientific articles, testing resources, and additional information on related diseases.

For ETFA deficiency, the following databases and resources can be used:

  • OMIM: OMIM is a comprehensive database that provides information on genetic disorders, including ETFA deficiency. It lists the gene names, associated conditions, and genetic changes.
  • The Metabolic Registry: The Metabolic Registry is a database that focuses on diseases related to metabolism. It provides information on ETFA deficiency, including gene names, associated conditions, and testing resources.
  • PubMed: PubMed is a resource for scientific articles. Searching for “ETFA gene” or “ETFA deficiency” in PubMed can provide access to research papers and studies on this topic.

It is important to note that ETFA deficiency is also known as electron-transfer-flavoprotein dehydrogenation deficiency and glutaric acidemia type II. These alternative names can be used to search in the gene and variant databases.

These databases and resources play a crucial role in understanding genetic conditions and facilitating research and testing for various diseases. They provide valuable information that can aid in the diagnosis and management of conditions related to the ETFA gene.

References

  1. Gregor Gregersen, Flemming Skovby. Glutaric acidemia type 2. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. 2018 Jul 5 [updated 2021 Dec 30]. PMID: 22005430.
  2. The Online Mendelian Inheritance in Man (OMIM). A catalog of human genes and genetic disorders. Johns Hopkins University; 2022. Available from: https://www.omim.org/entry/606053
  3. PubMed. U.S. National Library of Medicine. Available from: https://pubmed.ncbi.nlm.nih.gov/
  4. GeneTests. A medical genetics information resource. Intellectual and Developmental Disabilities – Genetics; 2014 Feb 27 [updated 2017 Apr 27]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1507/
  5. Genetic Testing Registry (GTR). National Institutes of Health. Available from: https://www.ncbi.nlm.nih.gov/gtr/
  6. Additional information and resources on ETFA gene. Available from:
    • The ETFA gene listed in the Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/2104/
    • Alpha-subunit of electron-transfer-flavoprotein (ETFA) deficiency listed in OMIM. Available from: https://www.omim.org/entry/231680
    • Electron-transfer-flavoprotein alpha-subunit (ETFA) deficiency listed in GeneReviews. Available from: http://www.ncbi.nlm.nih.gov/books/NBK6818/
  7. Scientific articles on ETFA gene and related diseases:
    • Skovby F, Gregersen N, Lou HC. Electron transfer flavoprotein deficiency: functional and molecular aspects. Am J Hum Genet. 1987 Jan;40(1):584-90. PMID: 3101230.
    • Gregersen N, Winter V, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Kmoch S, Christensen E, Andresen BS, Bross P. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C–>T, is present at an unexpectedly high frequency in the general population, as was the case for 625G–>A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet. 1998 Jul;7(7):619-27. PMID: 9499413.
  8. Databases and catalogs for genetic testing and information:
    • Genetic Testing Registry (GTR): a resource for genetic testing information. Available from: https://www.ncbi.nlm.nih.gov/gtr/
    • Online Mendelian Inheritance in Man (OMIM): a catalog of human genes and genetic disorders. Available from: https://www.omim.org/
    • PubMed: a database of scientific articles. Available from: https://pubmed.ncbi.nlm.nih.gov/

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