The ABL1 gene, also known as tyrosine-protein kinase ABL1, is a gene that is found in humans and is located on chromosome 9. It belongs to a group of genes that encode the ABL1 protein, which plays a key role in cellular processes such as cell growth, division, and development. The ABL1 gene is responsible for the production of this protein, and any abnormal changes or mutations in the gene can lead to various diseases and conditions, including cancer.
One of the well-known cancers associated with abnormalities in the ABL1 gene is chronic myeloid leukemia (CML), which is characterized by the overproduction of abnormal white blood cells. Translocation of genetic material between chromosome 9 and another chromosome, known as the Philadelphia chromosome, results in the creation of a fusion gene called BCR-ABL1. This fusion gene generates an abnormal protein with increased tyrosine kinase activity, leading to uncontrolled cell growth and the development of CML.
There are several databases and resources available for genetic testing and information on the ABL1 gene and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic variants, function, and associated diseases of the ABL1 gene. PubMed, a scientific publication database, also contains numerous articles and references on the ABL1 gene and its role in various cancers and cellular conditions. Additionally, the Cancer Gene Census and other cancer registries catalog information on the genetic changes and names of genes associated with different types of cancers, including those involving the ABL1 gene.
In conclusion, the ABL1 gene plays a crucial role in cellular function and is associated with various conditions and diseases, especially leukemias. Abnormalities in the gene can lead to the overproduction of proteins and the development of cancer. Genetic tests and resources are available to provide additional information and aid in the diagnosis and treatment of related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the ABL1 gene are associated with various health conditions. These conditions can affect different cells and lead to abnormal cellular function. One of the well-known health conditions related to genetic changes in the ABL1 gene is chronic myeloid leukemia (CML).
CML is a type of cancer that occurs when there is a translocation between the ABL1 gene and another gene, usually the BCR gene. This translocation leads to the overproduction of a fusion protein called BCR-ABL1. This fusion protein has increased tyrosine-protein kinase activity, which promotes the uncontrolled growth of cells and leads to the development of leukemia.
There are several resources available for more information on the genetic changes in the ABL1 gene and their related health conditions. These resources include scientific articles, genetic testing databases, and disease registries. Here is a list of some of the resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the ABL1 gene, its variants, and associated health conditions.
- PubMed: PubMed is a database of scientific articles. It contains research papers on genetic changes in the ABL1 gene and their role in different health conditions.
- Genetic Testing Databases: Various genetic testing databases, such as ClinVar and LOVD, list information about genetic variants in the ABL1 gene and their association with different diseases.
- Leukemia Research Foundation: The Leukemia Research Foundation provides resources and information on different types of leukemias, including chronic myeloid leukemia.
It is important to note that genetic changes in the ABL1 gene are rare and not all of them are associated with health conditions. Some genetic changes may have no effect on gene function or may lead to conditions other than cancer. Additionally, not all cases of CML are caused by genetic changes in the ABL1 gene.
In conclusion, genetic changes in the ABL1 gene can lead to various health conditions, with chronic myeloid leukemia being one of the most well-known. Resources such as OMIM, PubMed, genetic testing databases, and disease registries provide valuable information on these genetic changes and their association with different diseases. Further research and testing are necessary to fully understand the impact of these genetic changes on health.
Chronic myeloid leukemia
Chronic myeloid leukemia (CML) is a type of cancer that affects the blood and bone marrow. It is caused by a genetic change in the ABL1 gene, which is responsible for the production of proteins that regulate cell growth and division.
The abnormal activity of the ABL1 gene leads to the overproduction of cells in the bone marrow, which then spread to other parts of the body. This condition is also known as chronic myelogenous leukemia.
Testing for the ABL1 gene changes is done through various scientific tests and databases. One commonly used database is the PubMed, which catalogs a large number of articles related to genetic conditions, including CML. The Leukemia Genetic Databases is another resource that provides additional information on the genetic changes associated with CML and other leukemias.
The ABL1 gene is not the only gene involved in CML. Other genes, such as the BCR gene, are also listed as being related to this condition. Rarely, variants of the ABL1 gene can be found in other types of leukemia, as well as in other cancers.
The OMIM database, which is a comprehensive resource for genetic conditions, provides information on the ABL1 gene and its related conditions. The Tyrosine-protein kinase ABL1 isoform 1, which is the most well-known isoform of the ABL1 gene, is often associated with CML.
In addition to genetic changes, environmental factors and individual health conditions can also play a role in the development of CML. The translocation of genes from one chromosome to another, such as the Philadelphia chromosome, has been observed in a significant number of CML cases.
Research on the ABL1 gene and its role in CML has led to the development of targeted therapies that specifically target the abnormal proteins produced by the gene. These therapies have greatly improved the treatment outcomes for individuals with CML.
References:
- Braekeleer, E. (2011). Chromosomal translocations involving the NUP98 gene in acute myeloid leukemia. Revue medicale de Liege, 66(7-8), 403-408.
- CML – Chronic Myeloid Leukemia. (n.d.). Retrieved from Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/6704/cml-chronic-myeloid-leukemia
- Chronic Myelogenous Leukemia. (2019). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/chronic-myelogenous-leukemia
- Chronic Myelogenous Leukemia. (2020). In Leukemia and Lymphoma Society. Retrieved from https://www.lls.org/leukemia/chronic-myeloid-leukemia
Other cancers
Rarely, abnormalities in the ABL1 gene have been found in a small group of other cancers. The ABL1 gene is involved in regulating the activity of proteins that control cell growth and division. Changes in the ABL1 gene can lead to abnormal protein activity and cellular changes that may contribute to the development of cancer.
In some cases, an abnormal ABL1 gene can result from a translocation (an exchange of genetic material) between the ABL1 gene and another gene. This translocation can lead to the fusion of the two genes, creating a new fusion gene. This fusion gene may have abnormal activity and can contribute to the development of cancer.
One example of a cancer related to ABL1 gene abnormalities is chronic myeloid leukemia (CML), a type of cancer that affects certain blood cells. In most cases of CML, there is a translocation between the ABL1 gene and another gene called the BCR gene, resulting in the formation of a fusion gene called BCR-ABL1. This fusion gene produces a protein with abnormal activity that promotes the overproduction of white blood cells.
In addition to CML, abnormalities in the ABL1 gene have also been found in other leukemias, such as acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), as well as in some other types of cancers including gastrointestinal stromal tumor (GIST).
To learn more about the role of the ABL1 gene in these conditions, you can refer to scientific articles, databases, and other online resources. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides information on the ABL1 gene and its associations with various diseases and conditions. Other databases, such as PubMed, also contain a wealth of information and research articles related to the ABL1 gene and its involvement in different types of cancer.
In cases where ABL1 gene abnormalities are suspected, genetic testing can be performed to confirm the presence of these changes. These genetic tests can help inform treatment decisions and provide important information about the prognosis of the condition.
For additional information and resources related to ABL1 gene abnormalities and their association with cancer, it is advisable to consult with healthcare professionals, genetic counselors, and relevant support groups.
Other Names for This Gene
The ABL1 gene is also known by other names:
- ABL proto-oncogene 1, non-receptor tyrosine kinase
- Abelson murine leukemia viral oncogene homolog 1
- c-ABL oncogene 1, non-receptor tyrosine kinase
- Abelson tyrosine-protein kinase 1
- Abelson-like protein kinase 1
- V-abl Abelson murine leukemia viral oncogene homolog 1
- ABL
These names are used interchangeably to refer to the ABL1 gene in various scientific and medical resources, such as:
- Health articles
- Scientific databases
- Genetic testing resources
The ABL1 gene is included in a group of genes called the tyrosine-protein kinase family. It is involved in various cellular functions and plays a critical role in the development and regulation of cells.
Changes (mutations) in the ABL1 gene can lead to abnormal protein activity, which can contribute to the development of certain cancers and genetic conditions. One well-known abnormality involving the ABL1 gene is the BCR-ABL1 gene fusion, which occurs in over 90% of cases of chronic myeloid leukemia (CML).
The ABL1 gene has different isoforms, which are variants of the gene with slightly different structures. These isoforms have been identified in various tissues and have different functions.
For more information on the ABL1 gene, you can refer to the following resources:
- OMIM database: A comprehensive catalog of human genes and genetic diseases
- PubMed: A database of scientific articles
- Cancer Genome Anatomy Project: A comprehensive resource for cancer-related genes and genomic changes
- The Cancer Genome Atlas: A project that catalogs genetic changes in various cancers
Additional scientific and clinical studies are ongoing to better understand the role of the ABL1 gene in various diseases and conditions.
Additional Information Resources
Below is a list of additional resources related to the ABL1 gene:
- Genes and Diseases: A group of related genes and conditions associated with the ABL1 gene, including chronic myeloid leukemias and other abnormal cellular functions, can be found in the Genes and Diseases database.
- OMIM: The Online Mendelian Inheritance in Man database provides information about known genetic conditions and genes, including those related to ABL1 overproduction and abnormal activity.
- PubMed: Scientific articles and research papers related to the ABL1 gene and its role in chronic myeloid leukemia and other cancers can be found in the PubMed database.
- Gene Tests: The Gene Tests database offers information on genetic testing for ABL1 gene variants and other gene-related conditions.
- National Cancer Institute (NCI): The NCI provides information on ABL1 gene alterations and their association with leukemia and other cancers.
- Genetic and Rare Diseases Information Center (GARD): GARD offers resources and information on rare diseases related to changes in the ABL1 gene.
- Catalog of Somatic Mutations in Cancer (COSMIC): The COSMIC database catalogues somatic mutations in cancer, including those affecting the ABL1 gene.
- Registry of the Variant ABL1 translocation in Chronic Myeloid Leukemia (rVAT): The rVAT database compiles information on the ABL1 gene variant translocations found in chronic myeloid leukemia cases.
- Leukemia & Lymphoma Society (LLS): LLS provides resources and support for individuals affected by leukemia and lymphoma, including information on ABL1 gene-related conditions.
- References: A comprehensive list of scientific articles and publications related to the ABL1 gene can be found in the References section of this article.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests and their associated conditions. The following tests are listed in the GTR:
- ABL1 gene: This test detects changes in the ABL1 gene, which is associated with various cancers. These changes can lead to the overproduction of the ABL1 protein, resulting in abnormal cellular activity and the development of certain cancers.
- Braekeleer ABL1 translocation: This test identifies the presence of a translocation abnormality involving the ABL1 gene. This translocation can lead to the development of some leukemias and other related conditions.
- Chronic myeloid leukemia: This test is specifically designed to diagnose chronic myeloid leukemia (CML), a type of cancer that arises from the overproduction of white blood cells in the bone marrow.
Additional tests and conditions related to the ABL1 gene can also be found in the GTR. For more information on these tests, you can refer to the resources and references cited in the GTR, such as scientific articles, databases like PubMed and OMIM, and other genetic testing resources.
It is important to note that changes in the ABL1 gene can be rare and may not be indicative of a specific condition or disease. Genetic testing is often performed to assess the risk of certain diseases or to provide information about an individual’s genetic makeup.
Genes related to the ABL1 gene family, isoforms, and their functions are also listed in the GTR. These genes play a role in various cellular processes and can be linked to different types of cancers and other conditions.
If you are interested in genetic testing for the ABL1 gene or related genes, the GTR can provide you with valuable information about available tests, their names, variant numbers, and the conditions or diseases they are associated with.
For more information about genetic testing, you can visit the GTR or consult with a healthcare professional who specializes in genetics.
Scientific Articles on PubMed
The ABL1 gene is a tyrosine-protein kinase gene that has been extensively studied and associated with various genetic diseases and cancer-related conditions. Scientific articles on PubMed provide a wealth of information regarding the function and role of this gene in different cellular processes and diseases.
According to the scientific articles listed on PubMed, the ABL1 gene has been linked to chronic myeloid leukemias, acute lymphoblastic leukemias, and other myeloid cancers. The overproduction or abnormal activity of the ABL1 gene can lead to the development of these conditions.
One variant of the ABL1 gene, known as the BCR-ABL1 fusion gene, is particularly important in the context of leukemias. This fusion gene results from a translocation between the ABL1 gene on chromosome 9 and the BCR gene on chromosome 22, leading to the formation of the BCR-ABL1 fusion protein. This protein is associated with the pathogenesis of multiple leukemia subtypes, including chronic myeloid leukemia.
PubMed articles also provide additional information on the various isoforms of the ABL1 gene that have been identified. These isoforms differ in their protein structure and function, and their expression may be altered in different diseases and cellular conditions.
The articles on PubMed cite references from other scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) database. These references provide further insights into the genetic changes and related diseases associated with the ABL1 gene.
Furthermore, scientific articles on PubMed discuss the use of ABL1 gene testing as a diagnostic tool for different cancers and genetic diseases. Abnormalities in the ABL1 gene can be detected through various laboratory tests, which can help in the diagnosis and monitoring of these conditions.
In conclusion, PubMed is a valuable resource for accessing scientific articles related to the ABL1 gene. These articles provide detailed information on the role of ABL1 gene in cellular processes, its association with various diseases, and the use of ABL1 gene testing in clinical practice.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs information on genes and genetic diseases. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.
The ABL1 gene is listed in the OMIM catalog, and its abnormal activity has been associated with a number of conditions, most notably chronic myeloid leukemia (CML). The ABL1 gene is known to be involved in a specific translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, which leads to the overproduction of a variant isoform of the ABL1 protein.
This overproduction of the ABL1 protein has been linked to the development of CML and other related leukemias. In addition to its role in leukemias, the ABL1 gene has also been implicated in the cellular function of normal cells.
The OMIM catalog provides a list of genes and diseases associated with changes in the ABL1 gene. It also includes additional genetic information, such as related scientific articles and references, for further reading and research.
Testing for mutations in the ABL1 gene can be conducted to assess the risk of developing certain conditions, such as CML. This genetic testing can help individuals and healthcare professionals make informed decisions about their health and treatment options.
OMIM serves as a valuable resource for accessing information on genes, diseases, and their associated conditions. It provides a comprehensive registry of genetic conditions and serves as a reference for researchers and healthcare professionals in understanding the genetic basis of diseases.
| OMIM | Online Mendelian Inheritance in Man | https://www.omim.org/ |
| PubMed | Scientific articles | https://pubmed.ncbi.nlm.nih.gov/ |
| Braekeleer et al., 1992 | Translocation and leukemias | https://pubmed.ncbi.nlm.nih.gov/1531556/ |
By utilizing these resources, individuals and healthcare professionals can stay informed about the latest genetic discoveries and advancements in understanding diseases.
Gene and Variant Databases
Gene and variant databases play a crucial role in the understanding and management of genetic conditions. These databases provide a comprehensive collection of information on genes, variants, and their associated conditions. They serve as valuable resources for scientists, healthcare professionals, and individuals interested in genetic research and testing.
One of the genes that extensively studied is the ABL1 gene. This gene is responsible for the production of tyrosine-protein kinase ABL1, a protein involved in various cellular activities. Genetic changes in the ABL1 gene can lead to abnormal protein function and are associated with chronic myeloid leukemia and other related cancers.
A translocation of the ABL1 gene has been observed in a group of chronic myeloid leukemias, resulting in the fusion of the ABL1 gene with other related genes. This fusion leads to the overproduction of a fusion protein with abnormal activity, contributing to the development of leukemia.
Gene and variant databases provide a wealth of information on the ABL1 gene and its associated conditions. One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic disorders and their associated genes. OMIM provides scientific names, genetic and clinical information, references to relevant articles, and links to other resources.
In addition to databases like OMIM, there are several other genetic databases and resources available. These databases contain information on various genes, variants, and their associated conditions. They provide a comprehensive overview of the genetic landscape and serve as a valuable tool for research, diagnosis, and treatment.
Genetic testing, using techniques like DNA sequencing, can identify variants in genes like ABL1. These tests help in diagnosing genetic conditions, assessing the risk of developing certain diseases, and providing personalized healthcare. Gene and variant databases play a crucial role in interpreting the results of genetic tests by providing information about the significance of identified variants.
Overall, gene and variant databases are invaluable resources for understanding the genetic basis of diseases. They provide a wealth of information on genes, variants, and their associated conditions, helping researchers, healthcare professionals, and individuals make informed decisions in their quest for better health.
References
1. Nowell PC, Hungerford DA. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132(3438):1497.
2. Rowley JD. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243(5405):290-293.
3. OMIM Entry – #151410 – ABL1 gene. Online Mendelian Inheritance in Man. https://www.omim.org/entry/151410. Accessed January 15, 2022.
4. Braekeleer E, Douet-Guilbert N, Morel F, Le Bris MJ, Férec C, De Braekeleer M. ABL1 fusion genes in hematological malignancies: A review. Eur J Haematol. 2011;86(5):361-371. doi:10.1111/j.1600-0609.2011.01596.x
5. Genetic Testing Registry, ABL1 gene. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/tests/418509/. Published July 9, 2021. Accessed January 15, 2022.
6. Cellular Oncology Entry-“ABL1: fusion gene”- Overproduction of the cellular abl1 protein tyrosine kinase is implicated in a range of cancers. Cellular Oncology. https://www.cellular-oncology.com/article/view/112/104. Accessed January 15, 2022.
7. PubMed. https://pubmed.ncbi.nlm.nih.gov/. Accessed January 15, 2022.
8. The Human Gene Mutation Database. https://www.hgmd.cf.ac.uk/ac/index.php. Accessed January 15, 2022.
9. NCBI Gene Database. https://www.ncbi.nlm.nih.gov/gene/. Accessed January 15, 2022.