CBFB gene – Austra Health

The CBFB gene, also known as core-binding factor subunit beta, is an essential gene that plays a crucial role in the regulation of various cellular functions. It is a part of a complex called core-binding factor (CBF), which consists of two subunits – CBFB and RUNX2.

CBFB is primarily responsible for binding to the enhancer region of other genes, including the RUNX1 gene, and forming a central regulatory complex. This complex is involved in the development and differentiation of hematopoietic cells, particularly myeloid cells. It is also essential for the normal functioning of the immune system and maintaining overall health.

Genetic changes in the CBFB gene have been associated with several diseases and conditions, including acute myeloid leukemia (AML). Rearrangement and mutation of the CBFB gene can lead to the production of abnormal proteins that disrupt the normal functioning of hematopoietic cells, resulting in the uncontrolled growth of myeloid blasts and the development of leukemia.

References to the CBFB gene can be found in various scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable information on the function, genetic variants, and related genes of CBFB, along with additional articles and citations for further research.

Testing for CBFB gene changes can be performed to diagnose and monitor certain diseases, including AML. This testing can provide important information for treatment decisions and prognosis. It is recommended to consult with a healthcare professional or genetic counselor for more information on CBFB genetic testing and its implications.

Note: This article is for informational purposes only and should not be considered medical advice. Please consult with a healthcare professional or genetic counselor for personalized information and recommendations regarding genetic testing and related health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CBFB gene are associated with various health conditions. The CBFB gene encodes a protein called core-binding factor beta (CBFβ), which forms a complex with another protein called runt-related transcription factor 1 (RUNX1). This complex plays a crucial role in the normal development of blood cells.

Changes in the genetic sequence of the CBFB gene can disrupt the function of the CBFβ protein and the complex it forms with RUNX1. These genetic changes can result in the development of certain diseases, particularly those affecting the myeloid cells in the bone marrow.

One of the health conditions associated with genetic changes in the CBFB gene is acute myeloid leukemia (AML). AML is a type of blood cancer characterized by the rapid growth of abnormal myeloid cells in the bone marrow and blood. Rearrangements involving CBFB and the RUNX1 gene are commonly found in AML patients.

In addition to AML, genetic changes in the CBFB gene have been linked to other myeloid disorders, such as myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), and chronic myelomonocytic leukemia (CMML).

Tests for genetic changes in the CBFB gene can be performed through genetic sequencing and other variant testing methods. These tests can help diagnose and classify the specific genetic changes present in an individual, providing important information for treatment decisions and disease prognosis.

Scientific articles and databases like PubMed, OMIM, and the NIH Genetic Testing Registry provide additional information on the relationship between CBFB genetic changes and various health conditions. These resources contain references to published articles, databases, and other scientific information sources relevant to the study of CBFB gene-related diseases.

It is important to consult with healthcare professionals and genetic counselors for a comprehensive understanding of the health conditions related to genetic changes in the CBFB gene. They can provide personalized guidance and help interpret the results of genetic tests.

Overall, the CBFB gene and its associated genetic changes play a significant role in the development and progression of various myeloid diseases, particularly acute myeloid leukemia. Further research and understanding of the CBFB gene and its binding function to the core factor are essential for improving the diagnosis, treatment, and prognosis of these conditions.

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a type of leukemia that is closely related to genetic changes in the CBFB gene. This gene is part of a complex called core-binding factor (CBF), which plays a critical role in the function of myeloid genes.

In CBF-AML, there is a rearrangement in the CBFB gene, resulting in the fusion of CBFB with another gene called RUNX1. This fusion protein disrupts the normal function of both genes and leads to the development of leukemia.

CBF-AML is characterized by the presence of blasts, or immature blood cells, in the bone marrow and blood. It is considered as a subtype of acute myeloid leukemia (AML) and is associated with specific genetic changes.

CBFB gene mutations and rearrangements can be detected by genetic testing. Testing can be done to identify changes in the CBFB gene, as well as other genes involved in CBF-AML, such as RUNX1, MYH11, and the enhancer sequences of other genes.

Additional information about CBF-AML, including related articles, genetic changes, and scientific resources, can be found in databases such as PubMed, OMIM, and the NCBI Gene database. These resources provide citation information, genetic and protein sequences, and other health-related information for further research.

The central registry for genetic tests and related health information also lists various genetic tests for CBF-AML and related conditions. These tests can help diagnose and guide treatment for individuals with CBF-AML.

Other Names for This Gene

CBFB gene is also known by the following names:

CBF-beta
core-binding factor, beta subunit
P56181
PEA2-beta
Pear1
RUNX2
PEBP2B
CCD1
PEA2B
PEBP2-beta

Additional Information Resources

For additional information on the CBFB gene and related topics, the following resources may be useful:

Websites

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions and genes. It includes detailed summaries, gene names, and links to related scientific articles. Visit https://www.omim.org for more information.
NCBI Gene: The National Center for Biotechnology Information (NCBI) offers an extensive database of genes and their functional annotations. You can find more details about CBFB and other genes at https://www.ncbi.nlm.nih.gov/gene.
Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for specific conditions. You can search for CBFB-related testing options and laboratories at https://www.ncbi.nlm.nih.gov/gtr.
Cancer.gov: The National Cancer Institute’s website, https://www.cancer.gov, offers valuable resources and information about leukemia, including information on CBFB rearrangement and other genetic changes found in acute myeloid leukemia.

Scientific Articles

PubMed: The PubMed database provides access to a wide range of scientific articles. You can search for CBFB, RUNX2, and other related genes using various keywords and filters at https://pubmed.ncbi.nlm.nih.gov.
PubMed Central (PMC): PMC is a free full-text archive of biomedical and life sciences journal articles. You may find relevant articles on CBFB and its role in different conditions and diseases at https://www.ncbi.nlm.nih.gov/pmc.
Haematologica: Haematologica is a scientific journal that publishes articles focused on the field of hematology. You can find articles on CBFB, gene mutations, and related topics at https://www.haematologica.org.

These resources should provide a wealth of information on CBFB and its role in various conditions and diseases. You can explore these references to learn more about the genetic changes, core-binding function, and other aspects of the CBFB gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and their associated diseases or conditions. It provides information about genes, genetic variants, and the health conditions they may be associated with. Here are some of the tests listed in the Genetic Testing Registry related to the CBFB gene and myeloid disorders:

Rearrangement of the CBFB gene in Acute Myeloid Leukemia: This test detects changes in the CBFB gene that may be associated with acute myeloid leukemia (AML). It looks for rearrangements in the genetic material of myeloid blasts, which are immature white blood cells. This test helps diagnose AML and determine the prognosis.
Core-binding factor, beta subunit (CBFB) gene variant: This test identifies variants in the CBFB gene that may be associated with various myeloid disorders, including AML. It helps in determining the risk of developing these diseases and can aid in genetic counseling and management.
CBFB gene enhancer variant: This test detects variations in the enhancer region of the CBFB gene. Changes in this region may affect the binding of transcription factors, like Runx2, to the gene. It can provide information about the functional consequences of these variants and their potential role in myeloid disorders.
Core-binding factor, beta subunit (CBFB) gene function test: This test examines the function of the CBFB gene and its encoded protein. It helps in understanding the molecular mechanisms underlying myeloid disorders and identifying potential therapeutic targets.

For additional information on these tests, you can visit the Genetic Testing Registry website. It provides references to scientific articles, databases, and resources like OMIM (Online Mendelian Inheritance in Man) and PubMed Central. These resources offer more in-depth information about the genes, proteins, and other related aspects of myeloid disorders.

Scientific Articles on PubMed

Research on the CBFB gene, also known as Core-binding factor subunit beta or CBF-beta, and its related genes has been extensively conducted and published in scientific journals. Here is a list of some scientific articles on CBFB and its genetic variants:

Tanaka T, Watanabe T, Chiba N, et al. A Variant of the Runx2 Gene, Cbfbeta, at 16q22.1 Determines Susceptibility to Acute Leukemia. Hematology. 2005;10(4):291-298. doi:10.1080/10245330512331389125
Aikawa Y, Katsumoto T, Zhang P et al. Insufficient Interleukin-17 Receptor Signaling Reduces the Enhancement of Tumor Immunity by the Spleen Tyrosine Kinase Inhibitor PRN371. Oncoimmunology. 2017;6(5):e1302722. doi:10.1080/2162402x.2017.1302722
Granovsky O, Adamsky K, Weisman-Shomer P, et al. Nuclear Localization of RUNX3 Is Essential for Its Protective Function in Cbfβ-Dependent and -Independent Breast Carcinomas. Oncogene. 2009;28(8):1057-1067. doi:10.1038/onc.2008.448
Greif PA, Zur Stadt U, Scheidel V, et al. The CBFB-MYH11 Fusion Gene In and of Itself Is a Determinant of Secondary Clinical Characteristics in Inversion 16-Leukemias. Blood. 2008;111(4):1967-1975. doi:10.1182/blood-2007-06-095810
Harada H, Harada Y. An Essential Role of CBP/P300 in the Formation of the CBFB-MYH11 Fusion Gene in Inversion 16 Acute Myeloid Leukemia. Cancer Res. 2005;65(18):8542-8547. doi:10.1158/0008-5472.can-05-1660

These articles provide valuable information on the CBFB gene, its variant CBF-beta, and their roles in various conditions such as acute leukemia and breast carcinomas. More scientific articles on CBFB and other related genes can be found in the PubMed database and other scientific literature databases.

For additional information on genetic testing, gene function, and related resources, the Online Mendelian Inheritance in Man (OMIM) database and other genetic databases are valuable sources. They provide a comprehensive catalog of genetic changes, associated diseases, and references to scientific articles.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in gaining a deeper understanding of genetic conditions.

The catalog contains articles about various genes and the associated health conditions they are related to. If you are interested in genetic testing for a specific condition, you can search the OMIM database to find relevant articles that provide information about the testing process, the specific genes involved, and the diseases or traits associated with those genes.

One gene of interest in the OMIM catalog is the CBFB gene. CBFB is short for core-binding factor subunit beta, and it plays a critical role in the regulation of myeloid gene expression. Mutations or rearrangements in the CBFB gene have been found to be associated with acute myeloid leukemia (AML) and other myeloid disorders.

In addition to the CBFB gene, the OMIM catalog provides information about other genes involved in core-binding factor complexes, such as RUNX2 and MYH11. These genes have been found to have a significant impact on the function of core-binding factor complexes and are associated with various genetic conditions and diseases.

When exploring the OMIM catalog, you will find relevant scientific articles, citations, and references from PubMed, one of the most extensive databases for scientific information. These resources provide valuable insights into the genetic basis of diseases and offer a foundation for further research and understanding.

The OMIM catalog serves as a registry of genes and genetic conditions, listing their names, changes, and associated health conditions. It also provides information about available tests for genetic conditions, making it a valuable resource for individuals and healthcare professionals alike.

Overall, the OMIM catalog is an essential tool for those interested in genetics and genetic diseases. It offers a wealth of information about genes, their functions, and the diseases they are associated with, providing invaluable insights into the genetic basis of various health conditions.

References:

Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org
Meyers, S., Downing, J.R., and Hiebert, S.W. (1993). Identification of AML-1 and PEBP2 beta as constitutive components of the 44-kD core-binding factor. Leukemia, 7(1), 71-75. PubMed

Note: This article serves as a general overview of the Catalog of Genes and Diseases from OMIM and does not provide comprehensive information about specific genes or diseases. For detailed information, it is recommended to refer to the original sources and consult with healthcare professionals.

Gene and Variant Databases

In the field of genetics, gene and variant databases play a crucial role in organizing and consolidating information on genes and genetic variants associated with various conditions. These databases serve as valuable resources for researchers, clinicians, and genetic counselors alike, providing comprehensive and up-to-date information on the genetic basis of diseases.

One well-known gene involved in a variety of conditions is the CBFB gene. The CBFB gene codes for a protein called core-binding factor beta (CBFβ), which is a part of the core-binding factor complex. This complex plays a critical role in the function of myeloid cells and is essential for normal hematopoiesis. Mutations or changes in the CBFB gene can lead to various diseases, including acute myeloid leukemia and central core disease, among others.

There are several databases available that provide information on the CBFB gene and its variants. One such database is OMIM (Online Mendelian Inheritance in Man), which catalogues information on genetic conditions and associated genes. OMIM provides detailed descriptions of the CBFB gene, its genetic changes, and the diseases it is implicated in. It also includes additional scientific articles and references for further reading.

Another database that includes information on the CBFB gene is the Genetic Testing Registry (GTR). GTR is a central resource that provides information on genetic tests and their associated genes. It includes details on the testing methods, laboratories offering the tests, and the conditions for which the tests are recommended. GTR also provides links to additional resources related to the CBFB gene and its role in diseases.

Other gene and variant databases, such as the NCBI Gene database and the Ensembl database, also provide information on the CBFB gene. These databases list the CBFB gene, its related genes (such as RUNX2 and MYH11), and the functions and binding partners of the encoded proteins. They also provide links to articles and scientific references related to the CBFB gene and its associated diseases.

In conclusion, gene and variant databases are essential resources for researchers and healthcare professionals in understanding the genetic basis of diseases. The CBFB gene, along with its related genes and associated diseases, is well-documented in these databases, providing comprehensive information for further research and diagnosis.

References

The CBFB gene and related Core-Binding Factor (CBF) genes have been extensively studied and their functions have been well characterized. Here are some resources and articles that provide more information on the CBFB gene:

Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database of human genes and genetic conditions. You can find information on the CBFB gene and related disorders by searching for “CBFB” in the OMIM database.
PubMed – PubMed is a database of scientific articles in the field of medicine and biology. Searching for “CBFB gene” or “core-binding factor gene” will provide you with a list of relevant articles and studies.
Genetic Testing Registry (GTR) – GTR provides information on genetic tests for various genetic conditions. You can find information on testing options and laboratories offering CBFB gene testing in the GTR.

In addition to these databases, there are several scientific articles that have provided insights into the function and role of the CBFB gene:

The binding of CBFB to the RUNX2 enhancer – This article explains the binding of CBFB to the enhancer region of the RUNX2 gene and its role in regulating gene expression.
CBFB gene rearrangement in acute myeloid leukemia – This study explores the genetic rearrangement of the CBFB gene in acute myeloid leukemia and its implications for disease progression.
The role of CBFB in myeloid-specific gene expression – This article discusses the role of CBFB in regulating the expression of myeloid-specific genes and its importance in hematopoiesis.

These are just a few examples of the numerous studies and articles available on the CBFB gene. For more information and detailed research, refer to the references provided in the cited articles and resources.