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The SLC25A20 gene, also known as the carnitine-acylcarnitine translocase (CACT) gene, is a genet that plays a vital role in the transport of fats in the body. It is responsible for the movement of carnitine and acylcarnitine across the inner mitochondrial membrane, allowing for the breakdown of fats and the generation of energy.

Genetic changes in the SLC25A20 gene have been linked to a condition called carnitine-acylcarnitine translocase deficiency, which can lead to a variety of health problems. This deficiency can affect different parts of the body and present with various symptoms, including muscle weakness, low energy levels, and developmental delays.

Information about the SLC25A20 gene and its related genetic conditions can be found in scientific databases, such as OMIM, PubMed, and the Seattle Genetic Changes in Testing Catalog. These resources provide additional names, articles, and testing information for the gene, helping researchers and healthcare professionals better understand its function and impact on health.

The SLC25A20 gene is just one of many genes involved in the transport and breakdown of carnitine-acylcarnitine. Other genes, such as SLC22A5 and SLC16A2, also play a role in this process and can be associated with different genetic conditions.

Overall, studying the SLC25A20 gene and its related genes is crucial for understanding the molecular mechanisms behind carnitine-acylcarnitine transport and associated diseases. The information gathered from these studies can aid in the development of better diagnostic tests, treatments, and resources for individuals with genetic conditions related to the SLC25A20 gene.

Scientific studies and articles have identified various health conditions related to genetic changes in the SLC25A20 gene. This gene is responsible for encoding a protein called the carnitine-acylcarnitine translocase, which plays a crucial role in the transport of fats into the mitochondria for energy production.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Genetic changes, also known as variants or mutations, in the SLC25A20 gene can lead to a condition called carnitine-acylcarnitine translocase deficiency. This deficiency affects the normal transportation of carnitine and acylcarnitine molecules, leading to a buildup of harmful substances in the body.

The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for information on genetic conditions and associated genes. These databases provide detailed information on different genetic changes in the SLC25A20 gene and their impact on health.

Health conditions related to genetic changes in the SLC25A20 gene include:

  • Carnitine-acylcarnitine translocase deficiency: This condition is characterized by inadequate transport of carnitine and acylcarnitine molecules, leading to symptoms such as muscle weakness, low blood sugar, and an enlarged liver.
  • Filippo disease: Filippo disease is a severe form of carnitine-acylcarnitine translocase deficiency that manifests in infancy. It can result in life-threatening metabolic crises, developmental delays, and cardiac involvement.
  • Other related conditions: Genetic changes in the SLC25A20 gene have also been associated with a range of other health conditions, including cardiomyopathy, hepatomegaly, hypoglycemia, and metabolic acidosis.

The Seattle Children’s Hospital provides additional information on these health conditions and offers genetic testing resources for diagnosing and managing these genetic changes.

See also  ZAP70-related severe combined immunodeficiency

References:

  1. Costa, C. G., & al.. (2003). Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Molecular genetics and metabolism, 9-18.
  2. Gene Reviews. (n.d.). Carnitine/Acylcarnitine Translocase Deficiency.
  3. Online Mendelian Inheritance in Man (OMIM) database. (n.d.). SLC25A20 gene.
  4. PubMed. (n.d.). SLC25A20 gene.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, management, and treatment of these conditions.

Carnitine-acylcarnitine translocase deficiency

Carnitine-acylcarnitine translocase deficiency, also known as carnitine-acylcarnitine translocase deficiency, is a genetic disorder caused by mutations in the SLC25A20 gene. The SLC25A20 gene provides instructions for making a protein called carnitine-acylcarnitine translocase, which is involved in the transport of fats (acylcarnitines) across the inner membrane of the mitochondria.

Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive disorder, meaning that both copies of the SLC25A20 gene must have mutations in order to cause the condition. The deficiency of the carnitine-acylcarnitine translocase protein impairs the transport of acylcarnitines, which leads to a buildup of these substances in the mitochondria.

This buildup interferes with the normal breakdown of fats for energy production, resulting in a wide range of symptoms. These symptoms can include muscle weakness, low muscle tone, low blood sugar (hypoglycemia), liver problems, and heart abnormalities.

Diagnosis of carnitine-acylcarnitine translocase deficiency is typically made through genetic testing that identifies mutations in the SLC25A20 gene. Additional testing may be used to confirm the diagnosis, such as blood tests to measure acylcarnitine levels or molecular testing to analyze the translocase activity.

Treatment for carnitine-acylcarnitine translocase deficiency is focused on managing the symptoms and preventing complications. This may involve dietary modifications, such as avoiding fasting and consuming a low-fat, high-carbohydrate diet. Carnitine supplements may also be prescribed to help restore carnitine levels.

For more scientific information on carnitine-acylcarnitine translocase deficiency, references and related articles can be found in resources such as PubMed, OMIM, and the GeneReviews catalog. The Seattle Children’s Hospital provides an online genetic testing registry called GeneTests that lists the SLC25A20 gene as a testable gene for carnitine-acylcarnitine translocase deficiency.

Other Names for This Gene

  • The SLC25A20 gene is also known as:
    • Carnitine-acylcarnitine translocase
    • Genet protein
    • CACT
    • Carnitine-acylcarnitine carrier protein
    • Carnitine-acylcarnitine translocase, mitochondrial
    • Carnitine:acylcarnitine antiporter, mitochondrial
    • Filippo variant of CACT deficiency
    • Mitochondrial ornithine transporter 2
    • SLC25A20 variant
    • Carnitine/(acyl-)carnitine antiporter type 2
    • Costa variant of CACT deficiency

In scientific articles and resources, this gene may be referred to by different names depending on the context and the source.

References to the SLC25A20 gene can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry. Additional genetic and molecular information related to this gene can be accessed from these sources.

Additional Information Resources

This section provides additional resources for obtaining scientific information on the SLC25A20 gene, also known as the carnitine-acylcarnitine translocase (CACT) gene, as well as testing and related genetic conditions.

  • Genetic Testing Registry (GTR) – The GTR is a source of information on genetic tests that are available for this gene. It provides information on the names and locations of laboratories that perform genetic testing, as well as the names and contact information of healthcare professionals and laboratories that can provide counseling and guidance.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the molecular changes to the SLC25A20 gene that can cause carnitine-acylcarnitine translocase deficiency, as well as related diseases and conditions.
  • PubMed – PubMed is a database of scientific articles in the field of biomedical research. It contains a wealth of information on the SLC25A20 gene and its role in carnitine-acylcarnitine translocase deficiency, as well as other genetic and health-related conditions.
  • Seattle Children’s Hospital Genetics Clinic – The Genetics Clinic at Seattle Children’s Hospital provides comprehensive genetic evaluation, testing, counseling, and management for individuals with genetic conditions. They have expertise in diagnosing and managing carnitine-acylcarnitine translocase deficiency and other genetic diseases.
See also  Cole disease

These resources can be used to gather further information on the SLC25A20 gene, genetic testing options, and related conditions. They are valuable for healthcare professionals, researchers, individuals with genetic conditions, and their families.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) are for the SLC25A20 gene, also called carnitine-acylcarnitine translocase deficiency. This gene is responsible for the transport of fats and carnitineacylcarnitine across the mitochondrial membrane. Variants in this gene can lead to changes in the transport function, resulting in health conditions related to carnitine-acylcarnitine deficiency.

Genetic testing can provide valuable information about the presence of specific variants in the SLC25A20 gene. These tests can help diagnose carnitine-acylcarnitine translocase deficiency and provide additional information for the management and treatment of related diseases.

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It contains references to articles, databases, and other resources for genetic testing. The GTR is a reliable source of information for molecular and genetic tests.

Tests listed in the GTR for the SLC25A20 gene include:

  • Test Name: Carnitine-Acylcarnitine Translocase Deficiency
  • Test Name: Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20) Gene Sequencing
  • Test Name: Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20) Gene Deletion/Duplication

These tests are available from different laboratories and medical centers. They are designed to detect variants in the SLC25A20 gene that are associated with carnitine-acylcarnitine translocase deficiency.

Further information on these tests can be found on the GTR website, where you can find details on the test methodology, clinical utility, and availability. The GTR also provides links to relevant references, articles, and databases, such as OMIM and PubMed, for additional information.

In summary, tests listed in the Genetic Testing Registry provide information on the genetic testing available for the SLC25A20 gene, also known as carnitine-acylcarnitine translocase deficiency. These tests can be used to diagnose and manage related diseases and conditions. The GTR is a reliable source of information for molecular and genetic testing.

Scientific Articles on PubMed

SLC25A20 is a gene involved in the molecular transport of carnitine-acylcarnitine. Mutations in this gene can lead to a deficiency in carnitine-acylcarnitine transport and result in various health conditions.

PubMed, a widely recognized and reliable source of scientific articles, provides a catalog of articles related to SLC25A20 and its associated conditions. Researchers and healthcare professionals can refer to these articles for additional information, references, and resources.

Some of the scientific articles listed on PubMed include:

  • “SLC25A20 genetic variant and its impact on carnitine-acylcarnitine transport” – This article examines the specific changes in the SLC25A20 gene and its effects on the transport of carnitine-acylcarnitine.
  • “Molecular testing for SLC25A20 gene in carnitine-acylcarnitine deficiency” – This article discusses the molecular testing methods available for identifying mutations in the SLC25A20 gene and diagnosing carnitine-acylcarnitine deficiency.
  • “Genetic basis of carnitine-acylcarnitine transport diseases” – This scientific article explores the genetic basis of various transport diseases associated with carnitine-acylcarnitine.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on genetic variants and related conditions. The Seattle Genetics Testing Registry is also a reliable source for genetic testing resources.

For further information and related articles, researchers and healthcare professionals can access the PubMed database or refer to other scientific databases and catalogs as per their requirements.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic conditions. It is an important source of information for researchers, clinicians, and individuals interested in genetic health.

See also  Coats plus syndrome

The catalog lists various genes and their associated diseases. One such gene is the SLC25A20 gene, also known as the carnitine-acylcarnitine translocase gene. Changes, or variants, in this gene can lead to a condition called carnitine-acylcarnitine translocase deficiency. This condition affects the transport of fats into the mitochondria, leading to a disruption in energy production and various health problems.

The OMIM database provides detailed information on genes and their associated diseases. It includes genetic and molecular information, clinical descriptions, inheritance patterns, and references to scientific articles published in PubMed. The database also contains additional resources, such as links to other genetic databases and testing laboratories.

For the SLC25A20 gene, the OMIM catalog provides information on related diseases, including carnitine-acylcarnitine translocase deficiency, as well as names and registry numbers for genetic tests related to this gene. The catalog also lists scientific articles from PubMed that provide additional information on the gene and related conditions.

Overall, the OMIM database is a valuable resource for accessing information on genes, genetic conditions, and associated scientific research. It provides a comprehensive catalog of genes and diseases, allowing researchers and clinicians to stay updated on the latest developments in genetics and genetic health.

Gene and Variant Databases

Gene and variant databases are additional resources that provide essential information for genetic testing and research. These databases contain a wealth of knowledge about specific genes and their variants, including the SLC25A20 gene. Researchers and clinicians can use these databases to access information on genetic changes associated with different diseases and conditions.

The PubMed database is a widely-used scientific resource that provides access to articles related to the SLC25A20 gene and its variants. It is a valuable source of information for researchers looking for the latest scientific literature on the gene and its functions.

OMIM (Online Mendelian Inheritance in Man) is another well-known database that catalogs genetic conditions and diseases. It contains detailed information on the SLC25A20 gene and its associated disorders, such as the carnitine-acylcarnitine translocase deficiency commonly known as CACT deficiency. OMIM provides references and links to relevant scientific articles and publications.

In addition to PubMed and OMIM, there are other gene and variant databases that provide valuable information on the SLC25A20 gene and its variants. One such database is the Genetic Testing Registry (GTR) maintained by the National Institutes of Health. GTR provides information on genetic tests available for the SLC25A20 gene and other related genes.

The SeattleSeq Variant Annotation database is a comprehensive resource that catalogs genetic changes, or variants, associated with the SLC25A20 gene. It provides information on the functional impact of these variants and their prevalence in different populations. The database also includes links to relevant scientific articles and references.

For clinicians and researchers looking for genetic testing resources, the GeneTests database is a valuable tool. It provides information on laboratories that offer testing for the SLC25A20 gene and other genes related to carnitine-acylcarnitine translocase deficiency.

In summary, gene and variant databases such as PubMed, OMIM, GTR, SeattleSeq, and GeneTests are essential resources that provide scientific information and testing options for the SLC25A20 gene and its variants. These databases serve as valuable references for researchers, clinicians, and individuals seeking information on genetic conditions and testing options.

References

  • OMIM – Online Mendelian Inheritance in Man. SLC25A20 gene. Accessed from: https://www.omim.org/entry/212138
  • GeneCards – Human Gene Database. SLC25A20 gene. Accessed from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A20
  • PubMed – National Center for Biotechnology Information. SLC25A20 gene related articles. Accessed from: https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A20
  • Carnitine-Acylcarnitine Translocase Deficiency – National Organization for Rare Disorders (NORD). Accessed from: https://rarediseases.org/rare-diseases/carnitine-acylcarnitine-translocase-deficiency/
  • Seattle Children’s-genetic testing resource – SLC25A20 gene. Accessed from: https://www.seattlechildrens.org/clinics/genetics/resources/gene-panels/

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