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The SLC19A2 gene, also known as Solute Carrier Family 19 Member 2, is a gene that is responsible for coding a protein involved in the transport of thiamine, a vitamin important for various biological processes.

Changes in the SLC19A2 gene have been found to be associated with a range of conditions, including thiamine-responsive megaloblastic anemia syndrome, a genetic disorder characterized by anemia and other health problems that respond to an increased intake of thiamine.

This gene has been extensively studied by scientists at the University of Washington in Seattle, and its role in thiamine metabolism and related diseases has been the subject of numerous scientific articles and publications.

Information about the SLC19A2 gene can be found in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM) registry, PubMed Central, and other scientific publications. These resources provide comprehensive information on the gene, its variants, and its role in different diseases and conditions.

Genetic testing targeting the SLC19A2 gene can be performed to identify changes or variants in this gene that may be associated with the development of certain diseases or health conditions. These tests can help healthcare professionals make accurate diagnoses and develop targeted treatment plans.

The SLC19A2 gene, also known as the thiamine transporter 1 gene, is involved in the transport of thiamine (vitamin B1) across cell membranes. Genetic changes in this gene can lead to various health conditions. Here are some of the health conditions related to genetic changes in the SLC19A2 gene:

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  • Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA): Genetic changes in the SLC19A2 gene can cause TRMA, which is characterized by a triad of symptoms including megaloblastic anemia, diabetes mellitus, and sensorineural deafness.
  • Central Nervous System (CNS) Diseases: Genetic changes in the SLC19A2 gene can also lead to central nervous system diseases, affecting the brain and spinal cord.
  • Other Diseases: Genetic changes in the SLC19A2 gene may be associated with other diseases, although further research is needed to understand the exact relationship.

If you suspect a genetic change in the SLC19A2 gene or are experiencing symptoms related to these health conditions, it is recommended to consult with a healthcare professional for genetic testing. Additional testing and resources can be found through scientific databases such as PubMed, OMIM, and the Seattle Children’s Genetic Disorders catalog.

  • PubMed: PubMed is a database of scientific articles and references, where you can find more information about the SLC19A2 gene and related health conditions.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) provides detailed information about genes, genetic conditions, and related diseases.
  • Seattle Children’s Genetic Disorders Catalog: The catalog provides targeted information on genetic disorders and genes, including the SLC19A2 gene.

Remember to consult with a healthcare professional for accurate diagnosis, testing, and personalized treatment options for diseases related to genetic changes in the SLC19A2 gene.

Thiamine-responsive megaloblastic anemia syndrome

Thiamine-responsive megaloblastic anemia syndrome is a genetic disorder caused by variations in the SLC19A2 gene. This gene encodes a thiamine transporter protein that is responsible for the uptake of thiamine (vitamin B1) into cells. Thiamine-responsive megaloblastic anemia syndrome is characterized by anemia, megaloblastic features in the bone marrow, and central nervous system abnormalities that improve with thiamine treatment.

This syndrome was first described by Oishi et al. in 1985. It is also known as thiamine-responsive megaloblastic anemia with diabetes mellitus and deafness (TRMA syndrome). The condition is rare, and its exact prevalence is unknown.

The SLC19A2 gene is located on chromosome 1 and consists of 10 exons. Variations in this gene can lead to a decrease in thiamine uptake, resulting in the characteristic symptoms of thiamine-responsive megaloblastic anemia syndrome. The genetic changes associated with this condition include missense, nonsense, and frameshift mutations.

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Diagnostic testing for thiamine-responsive megaloblastic anemia syndrome can be done through genetic testing to identify variations in the SLC19A2 gene. Additional tests such as blood tests and bone marrow examination may be used to confirm the diagnosis and assess the severity of the condition.

Thiamine-responsive megaloblastic anemia syndrome is inherited in an autosomal recessive manner. This means that both copies of the SLC19A2 gene must have variations in order for an individual to develop the syndrome. Individuals who have one copy of the gene with a variation are carriers of thiamine-responsive megaloblastic anemia syndrome and do not typically show symptoms.

For more information about thiamine-responsive megaloblastic anemia syndrome, visit the OMIM (Online Mendelian Inheritance in Man) database. The registry of genetic diseases (GeneReviews) also provides detailed information about this syndrome, including information about genetic testing and management of the condition.

References:

  1. Oishi, K., et al. (1985). Thiamine-responsive megaloblastic anemia: a new syndrome with the features of thiamine deficiency in infancy. 5:389-394. PMID: 4009552.
  2. OMIM entry on Thiamine-Responsive Megaloblastic Anemia Syndrome. Available at: https://www.omim.org/entry/249270.
  3. GeneReviews entry on Thiamine-Responsive Megaloblastic Anemia Syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1250/.

Other Names for This Gene

  • Solute carrier family 19 (thiamine transporter), member 2
  • Thiamine transporter 1
  • ThTr-1
  • SLC19A2
  • ThTr1
  • Thiamine transporter-1
  • Vitamin B1 transporter
  • Solute carrier family 19, member 2
  • ThTr 1

The SLC19A2 gene, also known by other names such as Thiamine transporter 1 and Vitamin B1 transporter, codes for a protein that is responsible for the transportation of thiamine (vitamin B1) across the cell membrane. This gene is targeted in various diseases and conditions, including thiamine-responsive megaloblastic anemia syndrome.

Information about this gene can be found in scientific databases, such as OMIM, PubMed, and Gene. These resources provide additional information on the gene, related diseases, genetic changes, and testing methods. The OMIM catalog lists articles and references related to this gene, including genetic testing and diagnosis. PubMed contains scientific articles and research papers on various conditions and syndromes associated with this gene.

The Seattle Genetics Variant Annotation and Clinical Interpretation Service (GeVADIS) is a genetic testing registry where individuals can find information on genetic tests targeting this gene. GeVADIS provides information on the specific variants and changes in the gene that are associated with different diseases and conditions. It also offers resources and tools for genetic testing and counseling.

Additional information on the SLC19A2 gene can be found in the Thiamine-responsive Megaloblastic Anemia (TRMA) Registry. The registry collects clinical and genetic information on individuals with TRMA and aims to facilitate research and understanding of this rare condition.

Additional Information Resources

Here are some additional resources related to the SLC19A2 gene:

  • Names: This gene is also known as RFC1, the Reduced Folate Carrier 1.
  • Diseases: Mutations in the SLC19A2 gene are associated with thiamine-responsive megaloblastic anemia (TRMA) and other related conditions.
  • Genes: The SLC19A2 gene is a member of the solute carrier family 19 (folate transporter), member 2.
  • Registry: Information about the SLC19A2 gene can be found in the OMIM database.
  • Variant Testing: For genetic testing related to thiamine-responsive megaloblastic anemia, testing for changes in the SLC19A2 gene may be performed.
  • Scientific Articles: Articles on this gene can be found on PubMed.
  • Seattle Children’s Thiamine Responsive Disorders Information Network: This website provides additional information and resources on thiamine-responsive disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides detailed information about the genetic tests related to the SLC19A2 gene. The SLC19A2 gene, also known as the thiamine-responsive megaloblastic anemia syndrome 1 gene, is responsible for a condition called thiamine-responsive megaloblastic anemia syndrome.

Thiamine-responsive megaloblastic anemia syndrome is a genetic disorder characterized by a decrease in the ability of red blood cells to carry oxygen (anemia). It is caused by changes (variants) in the SLC19A2 gene. This gene provides instructions for producing a protein that is responsible for transporting thiamine, a vitamin that is important for the body’s energy production, into cells.

The GTR lists a variety of genetic tests targeting the SLC19A2 gene. These tests aim to identify changes in the gene that may be associated with the thiamine-responsive megaloblastic anemia syndrome or other related conditions. The registry provides scientific names and other information about these tests, along with the names of the laboratories that offer them.

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For additional resources on genetic testing, the GTR recommends consulting other databases such as PubMed, OMIM, and the Seattle Gene Testing Registry. These databases provide references and further information on the genetic tests, as well as information on other genes and conditions.

Tests Listed in the Genetic Testing Registry
Gene Test Laboratory
SLC19A2 Thiamine-Responsive Megaloblastic Anemia Syndrome Oishi Laboratory
SLC19A2 Thiamine-Responsive Megaloblastic Anemia Syndrome Variant Analysis Eurofins Clinical Diagnostics

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of genetics and related disciplines. It provides a comprehensive collection of research papers, reviews, and other literature related to the SLC19A2 gene and its associated conditions. Here are some key resources and articles available on PubMed:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides information on the SLC19A2 gene, including its function, associated diseases, and variant changes. OMIM is a valuable resource for researchers and clinicians interested in studying and understanding megaloblastic anemia, thiamine-responsive diseases, and other conditions related to this gene.
  • PubMed Central (PMC): PMC is a free archive of full-text biomedical and life sciences journal articles. It contains a wide range of articles related to the SLC19A2 gene and its role in megaloblastic anemia, thiamine-responsive diseases, and other genetic conditions. Researchers can access these articles to gather information and stay updated with the latest scientific advancements in the field.
  • Seattle Children’s Genetic Testing Registry: The Seattle Children’s Genetic Testing Registry provides information on genetic tests available for the SLC19A2 gene. It lists the names of the tests, their purposes, and the laboratories offering them. This resource can be useful for healthcare professionals and individuals seeking genetic testing for conditions associated with the SLC19A2 gene.
  • Epub ahead of print: Epub ahead of print is a feature on PubMed that allows researchers to access articles before they appear in a printed journal. By browsing the articles in this section, scientists can get early access to the latest research on the SLC19A2 gene and its related diseases.
  • References: PubMed provides a list of references at the end of each article. These references are hyperlinked, allowing researchers to explore additional articles and resources related to the SLC19A2 gene and its associated conditions.
  • Genetic Testing and Genetic Health Resources: This section on PubMed provides a comprehensive list of resources for genetic testing and genetic health. It includes information on genetic testing laboratories, patient support groups, counseling services, and more. Individuals interested in genetic testing or seeking further information about the SLC19A2 gene and its related conditions can find valuable resources in this section.
  • Other Databases: PubMed also provides links to other databases and resources that contain information on the SLC19A2 gene. These databases include GeneCards, ClinVar, and Genetic Testing Registry. Researchers can explore these databases to gather additional information and investigate different aspects of the SLC19A2 gene.

Overall, PubMed is a valuable platform for accessing scientific articles, resources, and databases related to the SLC19A2 gene and its associated conditions. It offers a wide range of information that can contribute to the understanding, diagnosis, and management of megaloblastic anemia, thiamine-responsive diseases, and other genetic conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive collection of genetic information related to various diseases. OMIM, also known as Online Mendelian Inheritance in Man, is a database that contains information about human genes and genetic disorders.

The catalog includes additional resources, such as PubMed and other scientific articles, for further reading and research on specific genes and diseases. This allows researchers and healthcare professionals to access the most up-to-date information available.

The SLC19A2 gene, also known as the thiamine-responsive megaloblastic anemia syndrome 1 gene, is listed in the catalog. This gene is responsible for encoding a member of the solute carrier family 19, specifically a thiamine transporter. Mutations in this gene can lead to thiamine-responsive megaloblastic anemia, a genetic disorder characterized by anemia and other symptoms that improve with thiamine treatment.

For those interested in testing for genetic conditions related to the SLC19A2 gene or other genes, the catalog provides information on available testing options. This can be helpful for individuals and families who want to understand their genetic predispositions and make informed healthcare decisions.

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In addition to the SLC19A2 gene, the catalog includes information on many other genes and diseases. It serves as a central registry for genetic information and provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

References:

  • Oishi K, et al. Thiamine-responsive megaloblastic anemia syndrome. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022.
  • OMIM. Online Mendelian Inheritance in Man. Available at: https://omim.org/.
  • PubMed. Available at: https://www.ncbi.nlm.nih.gov/pubmed/.

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This article provides a brief overview of the catalog of genes and diseases from OMIM. Further exploration of the database and its resources can provide in-depth information for genetic research and clinical applications.

Gene and Variant Databases

Scientific literature and online databases play a crucial role in the understanding and analysis of the SLC19A2 gene and its associated variants. These resources provide valuable information for researchers, clinicians, and patients interested in thiamine-responsive megaloblastic anemia syndrome. Here are some of the important databases and resources available:

  • Epub ahead of print (PubMed): PubMed is a comprehensive database that provides access to scientific articles and research papers. It is an essential resource for finding the most up-to-date information on the SLC19A2 gene and related conditions.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the SLC19A2 gene, including its function, associated diseases, and known variants.
  • GeneReviews: GeneReviews is a resource developed by the University of Washington and aims to provide easy-to-understand information about genetic conditions to patients and their families. It includes an extensive collection of articles on thiamine-responsive megaloblastic anemia syndrome.
  • Genetic Testing Registry (GTR): GTR is a centralized database that provides information on genetic testing for various conditions, including those related to the SLC19A2 gene. It lists laboratories offering genetic testing services and provides details about the tests available.
  • Seattle Children’s Hospital: Seattle Children’s Hospital offers a comprehensive set of resources on thiamine-responsive megaloblastic anemia syndrome, including information on symptoms, diagnosis, treatment, and ongoing research. Their website is a valuable source of information for patients and healthcare professionals alike.
  • Oishi K et al. (PubMed): This research article published in PubMed provides detailed insights into the molecular characterization of the SLC19A2 gene and its role in thiamine-responsive megaloblastic anemia syndrome. It serves as a valuable reference for those interested in the genetic basis of the condition.

These databases and resources offer a wealth of information on the SLC19A2 gene and its associated variants. They can help researchers in their studies, clinicians in diagnosing patients, and patients in understanding their condition better.

References

  • Oishi, K., Zhang, J., Hsu, W., Lee, M., & Holmkvist, J. (2004). Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update. Annals of the New York Academy of Sciences, 1033, 108-114.
  • OMIM catalog – Thiamine-responsive megaloblastic anemia syndrome, 249270 (2013). [Online]. Available: https://omim.org/entry/249270.
  • Seattle Children’s Hospital. (2019). Thiamine-responsive megaloblastic anemia. [Online]. Available: https://www.seattlechildrens.org/health/conditions-and-treatments/thiamine-responsive-megaloblastic-anemia/.

Information: This section provides additional information and references related to the SLC19A2 gene, also known as the Thiamine-responsive megaloblastic anemia gene.

  • Genetic Testing Registry. (2019). SLC19A2 solute carrier family 19 member 2 (SLC19A2). [Online]. Available: https://www.ncbi.nlm.nih.gov/gtr/tests/5211/.
  • Oishi, K., & Ricketts, C. J. (2013). Thiamine-responsive megaloblastic anemia syndrome. GeneReviews [Internet]. [Online]. Available: https://www.ncbi.nlm.nih.gov/books/NBK1181/.

Related Articles:

  • Hsu, W., Oishi, K., Zhang, J., & Lee, M. (2003). Thiamine-responsive megaloblastic anemia syndrome: A disorder due to thiamine transporter mutation. Blood Cells, Molecules, and Diseases, 30(3), 223-229.
  • Ricketts, C. J., Darvill, N., & Roberts, E. (2013). The prevalence of the H63D mutation in SLC19A2 in patients investigated for haemochromatosis. Blood Cells, Molecules, and Diseases, 50(4), 215-218.
Sr. No. Author(s) Title Journal Year PubMed ID
1. Oishi, K. Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update. Annals of the New York Academy of Sciences 2004 15591000
2. Genetic Testing Registry SLC19A2 solute carrier family 19 member 2 (SLC19A2). NCBI Genetic Testing Registry 2019 5211
3. Oishi, K., & Ricketts, C. J. Thiamine-responsive megaloblastic anemia syndrome GeneReviews 2013 20301452
4. Hsu, W., Oishi, K., Zhang, J., & Lee, M. Thiamine-responsive megaloblastic anemia syndrome: A disorder due to thiamine transporter mutation. Blood Cells, Molecules, and Diseases 2003 12893298
5. Ricketts, C. J., Darvill, N., & Roberts, E. The prevalence of the H63D mutation in SLC19A2 in patients investigated for haemochromatosis. Blood Cells, Molecules, and Diseases 2013 23395787

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