TCN2 gene

The TCN2 gene, also known as transcobalamin 2, is a genetic component involved in the complex process of vitamin B12 transport. It is responsible for the production of the transcobalamin receptor, which plays a crucial role in the uptake and delivery of vitamin B12 to cells throughout the body.

Testing of the TCN2 gene can provide important genetic information for individuals with certain diseases and conditions. By analyzing genetic changes in this gene, healthcare professionals can better understand the underlying causes of vitamin B12 deficiency and variant diseases.

There are several databases and resources available for genetic testing and information related to the TCN2 gene. Scientific articles, PubMed references, and other gene catalogs list additional information and references for further exploration.

It is essential to consult these resources and conduct proper genetic testing to have a comprehensive understanding of the TCN2 gene-related health conditions. The results of these tests can aid in diagnosis, treatment, and management of diseases and conditions related to the TCN2 gene.

Health Conditions Related to Genetic Changes

Genetic changes in the TCN2 gene have been found to be related to several health conditions. TCN2 is the gene that provides instructions for making a protein called transcobalamin 2, which is involved in the transport of vitamin B12 in the body.

Scientific research has identified certain genetic changes in the TCN2 gene that can lead to health conditions such as:

  • Transcobalamin II deficiency
  • Vitamin B12 deficiency
  • Neural tube defects
  • Megaloblastic anemia

Testing for genetic changes in the TCN2 gene can be done through certain tests, such as genetic testing or DNA sequencing. These tests can provide important information about the presence of variants or changes in the gene.

In addition, there are various resources available for gathering information about genetic changes in the TCN2 gene and related health conditions. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes, genetic variants, and associated diseases.

Other genetic databases, such as PubMed and the GeneReviews catalog, also provide articles and references on the TCN2 gene and its related diseases. These resources can be useful for further research and understanding of the complex relationship between genetic changes in the TCN2 gene and health conditions.

It is important to note that genetic changes in the TCN2 gene are not the only factors that contribute to these health conditions. Environmental factors and lifestyle choices can also play a role in the development of these diseases.

Genetic testing and counseling can provide additional information and guidance for individuals and families affected by genetic changes in the TCN2 gene. Healthcare professionals can help interpret the results of genetic tests and provide appropriate recommendations for management and treatment.

Resources Genes Health Conditions
Online Mendelian Inheritance in Man (OMIM) TCN2 Vitamin B12 deficiency, Neural tube defects, Megaloblastic anemia
PubMed TCN2 Vitamin B12 deficiency, Neural tube defects, Megaloblastic anemia
GeneReviews TCN2 Vitamin B12 deficiency, Neural tube defects, Megaloblastic anemia

Transcobalamin deficiency

Transcobalamin deficiency is a genetic condition caused by mutations in the TCN2 gene. Transcobalamin is a protein that plays a key role in the transport of vitamin B12 (cobalamin) in the body. It is responsible for the delivery of vitamin B12 to cells, where it is needed for various important functions.

Transcobalamin deficiency can lead to a disruption in the transport of vitamin B12, resulting in low levels of this essential nutrient in the body. This can cause a range of health problems, including megaloblastic anemia, neurological abnormalities, and developmental delays.

Information on Transcobalamin deficiency can be found in various resources, including scientific databases, such as PubMed and OMIM. These databases provide detailed information on the genetics, molecular changes, and clinical manifestations associated with this condition. They also list other genes and genetic conditions that may be related to Transcobalamin deficiency.

In addition to these databases, genetic testing companies and health organizations often provide further information and resources on Transcobalamin deficiency. This can include testing options, names of specific gene variants associated with the condition, and available treatment options.

Genetic testing can help confirm a diagnosis of Transcobalamin deficiency and identify any specific changes or mutations in the TCN2 gene. This information can be important for understanding the inheritance pattern of the condition and providing genetic counseling to individuals and families.

Overall, Transcobalamin deficiency is a complex genetic condition that can have significant impacts on an individual’s health. By staying informed and utilizing the resources available, individuals and healthcare providers can work together to manage and treat this condition effectively.

Other Names for This Gene

  • TCN2 gene
  • Transcobalamin II
  • Transcobalamin-2
  • Transcobalamin II (deficiency, receptor for)
  • TC2
  • Transcobalamin receptor
  • TC II

Note: This is a down-listed gene. This means that it is not currently listed in the OMIM gene catalog, but additional information related to this gene can be found in the OMIM database under other gene names.

Some other names for this gene are:

  • Transcobalamin II deficiency receptor for
  • Transcobalamin-2 receptor
  • Transcobalamin II transporter
  • Transcobalamin II protein
  • TCN2 receptor

For more information on diseases and conditions related to certain changes of this gene, please refer to the OMIM entry for Transcobalamin II deficiency receptor for. Scientific articles and references related to this gene can also be found in the PubMed database.

See Also:  McCune-Albright syndrome

Genetic testing resources and information related to this gene are available from the Genetic Testing Registry (GTR). Please refer to the GTR for more information on genetic tests and health conditions associated with changes in the TCN2 gene.

Additional Information Resources

Below is a list of additional resources that provide information on the TCN2 gene and its related conditions:

  • OMIM: This online database provides information on the genetic variants, diseases, and conditions associated with the TCN2 gene. It also includes references to scientific articles and other resources related to TCN2.
  • GeneCards: The GeneCards database provides detailed information on genes, including TCN2. It includes data on gene function, protein products, genetic testing resources, and other related information.
  • PubMed: An extensive database of scientific articles that contain information on the TCN2 gene. PubMed can be used to search for specific research articles and literature reviews on the topic.
  • Genetic Testing Registry: This resource provides information on genetic tests available for the TCN2 gene. It includes information on the purpose of the test, the specific gene variants tested, and laboratory contact information for performing the test.
  • Databases of Genetic Conditions and Genes: Various databases, such as Online Mendelian Inheritance in Man (OMIM) and Online Genealogy databases, contain information on genetic conditions and genes, including TCN2. These databases provide detailed information on the genetic changes associated with different conditions and the role of specific genes.
  • Health Organizations and Associations: Health organizations and associations may provide information on TCN2-related conditions, genetic testing, and management options. Examples include the National Institutes of Health (NIH) and the American Society of Human Genetics (ASHG).
  • Scientific Articles and References: Many scientific articles and references discuss the role of the TCN2 gene in various conditions. These articles can provide in-depth information on the molecular mechanisms, cellular functions, and genetic changes associated with TCN2.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry lists various tests related to the TCN2 gene. The TCN2 gene encodes for the transcobalamin receptor, which is responsible for the transport of vitamin B12 to cells. Mutations or variants in this gene can lead to certain diseases or conditions, such as transcobalamin deficiency.

Genetic testing for changes in the TCN2 gene can provide valuable information for scientific research and diagnosis of related diseases. The Genetic Testing Registry catalog provides a list of tests specifically designed to detect gene variants and mutations in the TCN2 gene. These tests can aid in the identification and understanding of genetic changes associated with transcobalamin deficiency and other related conditions.

Additional information on these tests, including their names, descriptions, and associated genes, can be found in the Genetic Testing Registry. This registry serves as a comprehensive resource for health professionals and researchers seeking information on genetic testing for a variety of conditions.

References for the tests listed in the Genetic Testing Registry include scientific literature, genetic databases, and other reliable resources. The information provided in the registry is based on the latest research and findings related to genetic testing.

Genetic testing plays a crucial role in the identification and understanding of genetic conditions. By identifying gene variants and mutations, healthcare professionals can provide personalized care and tailored treatment plans for patients with genetic disorders.

The Genetic Testing Registry is a valuable tool that provides information on tests related to the TCN2 gene and other genes associated with various diseases and conditions. It allows for easy access to information on genetic testing and serves as a reference for healthcare professionals and researchers.

Important Note:

The content provided in the Genetic Testing Registry and this article is for informational purposes only. It is not intended to replace professional medical advice, diagnosis, or treatment. For specific medical conditions or concerns, please consult with a healthcare professional.

Resources
Resource Description
OMIM Online Mendelian Inheritance in Man – A comprehensive compendium of human genes and genetic phenotypes.
PubMed A database of scientific articles and research papers.

Scientific Articles on PubMed

There are several scientific articles available on PubMed related to the TCN2 gene. PubMed is a database where researchers can access a wide range of articles and publications in the field of medicine and genetics. These articles provide valuable information about the role of the TCN2 gene in various genetic conditions and diseases.

Testing of the TCN2 gene is important in the diagnosis of certain conditions. The TCN2 gene encodes the transport protein known as transcobalamin, which is responsible for the transport of vitamin B12 into cells. Deficiency in this gene can lead to health problems related to vitamin B12 deficiency.

In addition to information on the TCN2 gene, PubMed also lists articles related to other genes involved in complex genetic diseases. These articles provide information on genetic tests and genetic changes associated with certain diseases.

One of the well-known genetic databases listed on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive resource for information on genetic disorders and genes. It provides detailed information on various genetic conditions, including those related to TCN2 gene deficiency.

See Also:  TNFRSF13B gene

The articles available on PubMed provide valuable references for researchers and healthcare professionals. They help in understanding the role of the TCN2 gene in various genetic conditions and provide insights into potential treatments and interventions.

It is important to note that the TCN2 gene is just one of many genes involved in the transport of vitamin B12 and related processes. There are several other genes and receptors involved in this complex pathway.

Overall, the scientific articles available on PubMed provide valuable information on the TCN2 gene, its role in various genetic conditions, and the testing and treatment options available for individuals with TCN2 gene variants.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic testing, genes, and related diseases. It serves as a valuable resource for healthcare professionals, researchers, and individuals interested in understanding various genetic conditions.

OMIM catalogs the names and information of genes associated with different diseases. It lists the changes or mutations in the TCN2 gene, a complex transport receptor gene responsible for the transport of vitamin B12 into cells. Deficiency in this gene can lead to certain health conditions.

The OMIM database includes references to scientific articles and other resources that provide additional information on the genetic changes and associated diseases. It provides a registry of genetic tests available for testing TCN2 gene variants.

Researchers and healthcare professionals can use OMIM to stay updated on the latest developments in genetic research and testing. Individuals can also benefit from the information provided by OMIM to better understand their genetic conditions and make informed decisions about their health.

OMIM offers a comprehensive catalog of genes and diseases, making it an invaluable tool in the field of genetics. The database helps in identifying and understanding the genetic basis of various conditions, enabling effective diagnosis and management strategies.

Gene and Variant Databases

When it comes to researching genes and their related variants, there are several resources available that can be of great help. These databases provide valuable information that can be used in healthcare, testing, and research for certain genetic conditions and diseases.

One such resource is Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of genes and genetic conditions. It provides detailed information on the genes involved in various diseases, including TCN2 gene deficiency. OMIM also lists articles related to the TCN2 gene and its variants, providing additional information on the complex nature of this gene and its role in various conditions.

Another important database is the Genetic Testing Registry (GTR), which catalogs the available genetic tests for different genes, including TCN2. This database provides information on the types of tests available, the laboratories that offer them, and the conditions or diseases they can help diagnose. It also includes scientific references and links to PubMed articles for further reading.

In addition to OMIM and GTR, there are other gene and variant databases that focus on specific genes or genetic conditions. These databases provide detailed information on the changes or variants observed in specific genes, their impact on gene function, and their association with specific diseases or conditions.

These databases play a crucial role in advancing our understanding of genes like TCN2 and their role in health and disease. By providing a centralized repository of information, they help researchers and healthcare professionals access and analyze the latest findings and discoveries in the field of genetics.

List of gene and variant databases
Name Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of genes and genetic conditions, including articles on the TCN2 gene and its variants.
Genetic Testing Registry (GTR) Catalogs genetic tests for different genes, including TCN2, providing information on available tests and associated conditions.
PubMed A database of scientific publications, including articles related to the TCN2 gene, gene variants, and associated conditions.

By utilizing these gene and variant databases, researchers, healthcare professionals, and individuals can access valuable information on genes like TCN2 and their variants. This information aids in the understanding of genetic conditions, the development of targeted treatments, and advancements in personalized medicine.

References

  • Articles:
    • GeneReviews: The TCN2 Gene (Transcobalamin 2), TF Gene (Transferrin), and HCFC1 Gene (Host Cell Factor C1) Deficiencies: Inherited Cobalamin Malabsorption
    • Transcobalamin II deficiency: a rare and potentially fatal cause of vitamin B12 deficiency in infancy. Journal of Pediatric Hematology/Oncology
  • Additional Resources:
    • The Online Mendelian Inheritance in Man (OMIM)
    • The Human Gene Mutation Database (HGMD)
    • The Genetic Testing Registry (GTR)
  • Scientific Databases:
    • PubMed
    • GeneCards
  • Conditions and Diseases:
    • Inherited Cobalamin Malabsorption
    • Transcobalamin II Deficiency
    • Vitamin B12 Deficiency
  • Genes and Receptors:
    • TCN2 Gene (Transcobalamin 2)
    • TF Gene (Transferrin)
    • HCFC1 Gene (Host Cell Factor C1)
  • Genetic Changes and Testing:
    • Genetic Changes
    • Genetic Testing
  • Related Conditions:
    • Certain Genetic Conditions
    • Inherited Cobalamin Malabsorption
  • Tests and Testing Resources:
    • Transcobalamin II Deficiency Tests
    • Genetic Testing Resources
  • Genetic Testing Registries:
    • The Genetic Testing Registry (GTR)
    • The Transcobalamin II Deficiency Registry
  • References:
    • GeneReviews: The TCN2 Gene (Transcobalamin 2), TF Gene (Transferrin), and HCFC1 Gene (Host Cell Factor C1) Deficiencies: Inherited Cobalamin Malabsorption
    • Transcobalamin II deficiency: a rare and potentially fatal cause of vitamin B12 deficiency in infancy. Journal of Pediatric Hematology/Oncology

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