The RUNX1T1 gene, also known as CBFA2T1 or ETO, is located on chromosome 8 and encodes a core-binding factor runt domain transcription factor 1 (CBF-RUNX1T1) protein. This gene plays a crucial role in hematopoiesis and is particularly associated with acute myeloid leukemia (AML) development.

The changes in the RUNX1T1 gene have been extensively studied and resources like the Online Mendelian Inheritance in Man (OMIM) and variant databases list important information about its genetic variants and related diseases and conditions.

Many scientific articles related to this gene can be found in PubMed and are available for free. The RUNX1T1 gene is also included in gene testing panels and registries for genetic diseases. Testing for variants in this gene can provide additional information for the diagnosis and management of certain diseases, especially leukemia.

The RUNX1T1 gene codes for a transcription factor that interacts with other proteins, such as the runt-related transcription factor 1 (RUNX1), and is involved in various genetic pathways. The RUNX1-ETO fusion protein, resulting from a chromosomal translocation involving the RUNX1T1 gene, is known to have oncogenic properties and is frequently found in AML.

References to the RUNX1T1 gene and its related proteins and genetic factors can be found in various scientific publications. Understanding the role of this gene in hematopoiesis and leukemia development is important for further research and the development of potential therapeutic interventions.

Health Conditions Related to Genetic Changes

The RUNX1T1 gene, also known as RUNX1-ETO, is a gene that plays a role in transcriptional regulation. Transcription is the process by which genetic information stored in DNA is converted into proteins. The RUNX1T1 gene encodes a protein called RUNX1-ETO, which is a fusion protein of the RUNX1 (runt-related transcription factor 1) and the ETO (eight-twenty-one) genes.

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Genetic changes in the RUNX1T1 gene can lead to various health conditions. One of the main health conditions associated with genetic changes in the RUNX1T1 gene is acute myeloid leukemia (AML). AML is a type of leukemia characterized by the rapid growth of abnormal white blood cells, called blasts, in the bone marrow. These blasts do not mature properly and interfere with the production of normal blood cells.

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for information on genetic diseases. It provides information on the genetic basis of diseases, including AML and other diseases related to genetic changes in the RUNX1T1 gene. The OMIM database lists additional names for the RUNX1T1 gene, such as AML1/ETO and CBFA2T1.

In addition to the OMIM database, there are other resources and databases that provide information on genetic changes and related health conditions. PubMed, a scientific publication database, is a useful resource for finding scientific articles related to the RUNX1T1 gene and its role in disease. The NCBI (National Center for Biotechnology Information) database provides information on genes, including the core catalog of genes and genetic variants.

Genetic testing for RUNX1T1 gene changes is available through various testing laboratories. These tests can detect changes in the gene and provide important information for diagnosing and managing health conditions related to the gene. It is important to consult with a healthcare professional to determine if genetic testing is appropriate and to understand the implications of the test results.

References:

• OMIM database. Available at: https://omim.org/
• PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/
• NCBI gene database. Available at: https://www.ncbi.nlm.nih.gov/gene/

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia, also known as CBF-AML, is a type of acute myeloid leukemia that is characterized by genetic changes involving the RUNX1T1 gene.

The RUNX1T1 gene, also called RUNX1-RUNX1T1 or RUNX1-ETO, is located on chromosome 8 and is involved in the regulation of gene transcription. In CBF-AML, a specific genetic change occurs, resulting in the production of a fusion protein between the RUNX1 gene and the RUNX1T1 gene. This fusion protein interferes with normal cellular processes, leading to the development of leukemia.

Core binding factor acute myeloid leukemia is associated with specific clinical and genetic features. It is often characterized by an overproduction of abnormal blasts, which are immature blood cells. The disease is also related to other genetic changes and mutations that contribute to the development of leukemia.

Core binding factor acute myeloid leukemia is listed in various genetic and health databases, including OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional information, scientific articles, and references related to the disease. Testing for genetic changes in the RUNX1T1 gene may be available for individuals with suspected or diagnosed CBF-AML.

It is important for individuals with core binding factor acute myeloid leukemia to receive appropriate medical care and treatment. Healthcare providers can provide information on available tests, treatment options, and support resources for patients and their families.

In conclusion, core binding factor acute myeloid leukemia is a type of acute myeloid leukemia characterized by genetic changes involving the RUNX1T1 gene. Additional information, references, and scientific articles on this condition can be found in various databases and resources.

Other Names for This Gene

This gene is also known by several other names:

• CBFB-MYH11
• ETO Fusion
• MTG8 Fusion
• RUNX1-CBFA2T1 Fusion
• RUNX1-Eight Twenty One Fusion
• RUNX1/ETO Fusion
• RUNX1/MTG8 Fusion
• AHO3
• MTGR1

The gene has been listed in various databases and resources under these different names. These alternative names are often used in scientific articles and publications related to this gene.

Further information about this gene and its related genes can be found in the following resources:

• OMIM: The Online Mendelian Inheritance in Man database provides information on genetic diseases and conditions caused by changes in this gene.
• PubMed: PubMed is a comprehensive database of scientific articles and publications. It contains a wealth of scientific information on the RUNX1T1 gene and related topics.
• GeneTests: GeneTests is a registry of genetic testing laboratories and services. It provides information on genetic testing options for various conditions and genes, including RUNX1T1.
• ClinVar: ClinVar is a database of genetic variants and their relationships to diseases. It includes information on variant interpretations for the RUNX1T1 gene.

These resources, along with other databases and references, can be used to find additional scientific information on the RUNX1T1 gene, its functions, and its role in various diseases such as acute myeloid leukemia.

The RUNX1T1 gene is also related to the RUNX1 gene, which encodes a transcription factor involved in the development and function of blood cells. The two genes are part of the core binding factor (CBF) complex, which plays a critical role in the regulation of gene expression.

Further research and studies are ongoing to understand the genetic changes and proteins associated with the RUNX1T1 gene and its role in health and disease.

Additional Information Resources

For additional information on the genetic conditions and diseases related to the RUNX1T1 gene, you can refer to the following resources:

• PubMed: You can search for scientific articles related to the RUNX1T1 gene, its variants, and their association with acute myeloid leukemia (AML) and other related conditions. PubMed is a free database of scientific articles and references.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genes and genetic disorders. You can find information about the RUNX1T1 gene, its aliases, and associated diseases on OMIM.
• Registry of Genomic Variants: This database lists genetic changes and variants, including those related to the RUNX1T1 gene. You can search for specific variants or changes and find information about their significance and association with diseases.
• Core Binding Factor Acute Myeloid Leukemia Registry: This registry collects information about patients with core binding factor acute myeloid leukemia (CBF-AML), which is associated with the RUNX1T1 gene. You can find information about clinical trials, treatment options, and resources for patients and healthcare providers.

In addition to these databases, you can also consider genetic testing for the RUNX1T1 gene and related genes. Genetic testing can help identify specific changes in the gene and provide information about the risk of developing diseases associated with these changes.

Overall, these resources can provide valuable additional information about the RUNX1T1 gene, its role in transcription factors and binding proteins, and its association with acute myeloid leukemia and other related diseases.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in the field of myeloid health. It involves the analysis of an individual’s genetic material to identify any potential genetic changes or variations that may contribute to certain diseases. In the case of the RUNX1T1 gene, which is also known as the RUNX1-ETO fusion gene, genetic testing can provide valuable information about its role in various conditions, particularly acute myeloid leukemia.

The Genetic Testing Registry (GTR) is a comprehensive and reliable resource that provides information about genetic tests related to different genes, including the RUNX1T1 gene. This database serves as a centralized catalog that offers access to a wide range of genetic testing resources.

Within the GTR, you can find genetic tests for the RUNX1T1 gene that can detect various changes or mutations related to this gene or its variant known as the RUNX1-ETO fusion gene. These tests typically analyze specific regions of the gene and surrounding DNA to identify any abnormalities that may be associated with leukemia or other myeloid diseases.

In addition to information about genetic tests, the GTR also provides various resources for further reading. These resources include references to scientific articles and databases such as PubMed and Online Mendelian Inheritance in Man (OMIM), which offer additional information about the RUNX1T1 gene and its role in myeloid leukemia and other conditions.

Moreover, the GTR lists other genes and transcription factors that are related to the RUNX1T1 gene and may be involved in myeloid diseases. Some of these genes, which are part of the core regulatory network, include the RUNX1 gene and other genes involved in myeloid lineage specification and differentiation.

Overall, the GTR serves as a valuable source of information regarding genetic testing for the RUNX1T1 gene and its implications in myeloid diseases like leukemia. It provides access to a wide array of genetic tests, references to scientific articles, and information about other related genes. This information can aid healthcare professionals, researchers, and individuals seeking more knowledge about the genetics of myeloid conditions.

Scientific Articles on PubMed

Related to RUNX1T1 gene:

• Health conditions and diseases linked to genetic changes in the RUNX1T1 gene
• Testing for RUNX1T1 gene variants in leukemia patients
• RUNX1T1 gene listed in the catalog of free genes
• Other genes associated with RUNX1-ETO fusion gene
• Names for RUNX1T1 gene in other databases such as OMIM

Additional Genetic Information and Resources:

• Scientific articles on RUNX1T1 gene
• Transcription factors and their role in myeloid blasts
• Databases containing references to RUNX1T1 gene
• Registry of genetic conditions and diseases

Acute Myeloid Leukemia (AML) and RUNX1T1 gene:

• Changes in the RUNX1T1 gene and their association with AML
• Proteins related to the RUNX1T1 gene and their role in AML
• Myeloid blasts and their interaction with the RUNX1T1 gene
• Core-binding factor (CBF) complex and its involvement in AML
• Tests for detecting RUNX1T1 gene mutations in AML patients

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a free repository of genetic and scientific information related to genes and diseases. It provides a comprehensive catalog of genes associated with various genetic conditions, including myeloid leukemia.

The RUNX1T1 gene, also known as the runt-related transcription factor 1 – core-binding factor, is a genetic variant that has been identified in cases of acute myeloid leukemia. This gene produces the runt homology transcription factor (RUNX1T1) protein, which plays a role in regulating gene expression in myeloid blasts.

In addition to the RUNX1T1 gene, the OMIM catalog includes information on other genes and genetic variants associated with myeloid leukemia and other related conditions. This includes names of additional genes and proteins involved in the pathogenesis of these diseases.

OMIM provides detailed information on the genetic basis of these diseases, including references to scientific articles and other resources for further reading. It also offers information on genetic testing and diagnostic procedures available for these conditions.

The catalog of genes and diseases in OMIM can be accessed for free, allowing healthcare professionals, researchers, and individuals interested in their health to access valuable genetic information. This information can be used for research, diagnosis, and genetic counseling purposes.

Overall, the OMIM catalog serves as a comprehensive resource for understanding the genetic basis of diseases, including myeloid leukemia, and provides valuable information for healthcare professionals and individuals seeking to learn more about these conditions and the genes associated with them.

Gene and Variant Databases

Various gene and variant databases provide valuable resources of information related to the RUNX1T1 gene. These databases offer access to a wide range of proteins and their associated genetic variants, along with other relevant data. Researchers can utilize these databases to explore the acute myeloid leukemia (AML)-associated gene and its related variants, aiding in the understanding of the underlying mechanisms and potential therapeutic targets.

1. NCBI Gene: This database provides a comprehensive catalog of information on genes, including RUNX1T1. It includes data on gene structure, function, genetic variations, and the associated diseases.

2. OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genetic conditions and their underlying molecular mechanisms. It includes references, scientific articles, and other resources related to the RUNX1T1 gene and its related genetic diseases.

3. PubMed: PubMed is a well-known database for scientific articles. Researchers can access a wide range of articles related to RUNX1T1 and its variants, allowing them to study various aspects such as gene function, genetic changes, and potential therapeutic interventions.

4. Variome: Variome is a database that focuses on genetic variants and their associated diseases. It provides information on the different variants and their frequencies in various populations, helping researchers understand the genetic diversity and potential impact on diseases.

5. ClinVar: ClinVar is a resource that aggregates data on genetic variants and their clinical significance. Researchers can explore the impact of different genetic changes in the RUNX1T1 gene on diseases, aiding in the interpretation of genetic testing results.

6. BindingDB: BindingDB is a database that focuses on protein-ligand interactions. Researchers can utilize this database to explore the binding properties of proteins related to the RUNX1T1 gene, providing insights into potential therapeutic targets.

7. Genetic Testing Registry (GTR): GTR provides information on genetic tests available for various diseases, including those related to the RUNX1T1 gene. It includes details on the testing laboratories, methodologies, and associated conditions, facilitating access to diagnostic and predictive testing for patients and healthcare professionals.

These databases and resources, among others, offer a wealth of information on the RUNX1T1 gene and its genetic variants. Researchers can access this information to enhance their understanding of the gene’s function, genetic changes, and potential therapeutic interventions.

References

• OMIM: Online Mendelian Inheritance in Man. A database that provides information on the genetic basis of human diseases. Available at: https://www.omim.org

• PubMed: A database of scientific articles on a wide range of topics, including the RUNX1T1 gene and its role in various diseases. Available at: https://pubmed.ncbi.nlm.nih.gov

• Genetic Testing Registry: A centralized resource for genetic testing information. Provides information on available tests, testing laboratories, and the clinical validity and utility of genetic tests. Available at: https://www.ncbi.nlm.nih.gov/gtr

• Genes & Diseases: A comprehensive catalog of genes associated with human diseases. Provides information on the genetic basis of diseases, including RUNX1T1 and its role in leukemia. Available at: https://www.ncbi.nlm.nih.gov/gene

• Leukemia & Lymphoma Society: A health organization that provides information on leukemia and other blood cancers. Offers resources for patients, families, and healthcare professionals. Available at: https://www.lls.org