The ITGA6 gene, also called integrins alpha 6 or alpha6, is a part of a network of genes that regulate various biological processes. It provides information for the production of alpha6 subunit, which forms a receptor called α6β1 integrin. This integrin is found on the surface of epithelial cells in various tissues and is involved in cell adhesion and signaling.
Changes in the ITGA6 gene have been associated with various conditions and diseases, including pyloric atresia, epidermolysis bullosa, and prostate cancer. Researchers have identified different variants of the ITGA6 gene that are related to these diseases and conditions.
In scientific articles and databases, the ITGA6 gene is also referred to by other names such as integrins alpha 6 beta 1, alpha6beta1 integrin, and α6β1 integrin. It is listed in various resources including the OMIM database, PubMed, and the Prostate Cancer Registry.
Testing for genetic changes in the ITGA6 gene can be helpful in diagnosing certain conditions and understanding the risk factors for diseases such as cancer. The identification of these changes can also provide insights into the underlying mechanisms of diseases and potentially lead to the development of new treatments or preventive strategies.
Health Conditions Related to Genetic Changes
Genetic changes in the ITGA6 gene have been associated with various health conditions. This gene provides instructions for making a protein called integrin alpha-6 (α6), which is a subunit of two different integrin receptors: α6β4 and α6β1. These receptors play important roles in cell adhesion and signaling.
One genetic variant in the ITGA6 gene is associated with junctional epidermolysis bullosa with pyloric atresia (JEB-PA), a rare genetic disorder characterized by fragile skin and other abnormalities. JEB-PA is listed in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive catalog of human genes and genetic disorders.
In addition to JEB-PA, changes in the ITGA6 gene have been linked to other conditions, including certain types of cancers. The α6β4 variant of integrin is known to regulate epithelial cell adhesion and migration, and abnormalities in this pathway have been implicated in the development and progression of prostate cancer.
Scientific articles and resources from databases such as PubMed and OMIM provide further information on the association between ITGA6 genetic changes and health conditions. These resources can be used to explore the genetic network and layers of information related to ITGA6 and other genes involved in various diseases and cancers.
Testing for genetic changes in the ITGA6 gene can be done through genetic testing labs and registries. These tests can help identify individuals at risk for developing certain health conditions associated with ITGA6 genetic changes.
It is important to note that while ITGA6 genetic changes may increase the risk of certain conditions, they are not the sole cause. Other genetic and environmental factors also contribute to the development of these health conditions.
References:
- OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
Epidermolysis bullosa with Pyloric Atresia
Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic condition characterized by the combination of epidermolysis bullosa (EB) and pyloric atresia. EB is a group of inherited skin disorders that cause blistering and skin fragility, while pyloric atresia is a condition where there is blockage or narrowing of the passage between the stomach and the small intestine.
EB-PA is caused by mutations in the ITGA6 gene, which encodes the alpha6 subunit of the integrin α6β4. Integrins are a family of proteins that play a crucial role in cell adhesion and signaling. The alpha6β4 integrin is primarily found in the basement membrane, a specialized layer of proteins that supports and connects different layers of cells in tissues.
The alpha6β4 integrin is particularly important in epithelial tissues, such as the skin and gastrointestinal tract. It helps maintain the integrity of these tissues by anchoring cells to the basement membrane and regulating various cellular processes involved in cell adhesion, migration, and signaling.
The ITGA6 gene is listed in various genetic databases and resources, including the OMIM catalog of human genes and genetic disorders. Additional information about the gene can be found in scientific articles and references listed in databases like PubMed.
Studies have shown that mutations in the ITGA6 gene can disrupt the normal function of the alpha6β4 integrin, leading to the development of EB-PA. These mutations can result in changes in the structure or production of the alpha6 subunit, impairing its ability to form the functional α6β4 integrin complex.
Epidermolysis bullosa with pyloric atresia is inherited in an autosomal recessive manner, which means that an individual must have two copies of the mutated ITGA6 gene to develop the condition. If both parents carry a single copy of the mutated gene, they have a 25% chance of having a child with EB-PA with each pregnancy.
EB-PA is typically diagnosed based on the clinical presentation of blistering skin and pyloric atresia in infancy. Genetic testing can also be performed to confirm the presence of mutations in the ITGA6 gene.
Treatment for EB-PA primarily focuses on managing the symptoms associated with blistering skin and pyloric atresia. This may include wound care, nutritional support, surgical repair of the pyloric atresia, and ongoing monitoring and management of complications.
In summary, epidermolysis bullosa with pyloric atresia is a rare genetic condition caused by mutations in the ITGA6 gene, which encodes the alpha6 subunit of the α6β4 integrin. This condition is characterized by the combination of blistering skin and pyloric atresia. Further research and scientific studies are necessary to better understand the underlying mechanisms and potential treatments for this condition.
Prostate cancer
Prostate cancer is a type of cancer that affects the prostate gland, which is a part of the male reproductive system. It is the most common type of cancer in men, and it usually develops slowly over time. Prostate cancer can cause a variety of symptoms, including difficulty urinating, blood in the urine or semen, erectile dysfunction, and pain in the hips, back, or chest.
The ITGA6 gene, also known as alpha6beta1 integrin, is involved in the regulation of cell adhesion and migration. It plays a role in the development and progression of several cancers, including prostate cancer. Changes in the ITGA6 gene can lead to alterations in the expression or function of the alpha6 subunit of integrins, which may contribute to the development of prostate cancer.
Scientific articles and research have shown that the ITGA6 gene and its variants are implicated in prostate cancer. Studies have identified alterations in the ITGA6 gene in prostate cancer cells and tissues, suggesting its involvement in the disease. Further research is needed to fully understand the mechanisms by which the ITGA6 gene contributes to prostate cancer development.
Testing for alterations in the ITGA6 gene may be beneficial for identifying individuals at higher risk for prostate cancer. Such testing can provide additional information for disease management and treatment decisions. However, it is important to note that genetic testing for prostate cancer is not recommended for everyone and should be conducted under the guidance of healthcare professionals.
There are several resources and databases available that provide information on the ITGA6 gene and its role in prostate cancer. These include PubMed, OMIM, and other genetic databases. These resources catalogue scientific articles, genetic changes, and related diseases, providing valuable information for researchers and healthcare professionals.
In conclusion, the ITGA6 gene has been implicated in prostate cancer. Changes in the gene may play a role in the development and progression of this common cancer. Further research and testing are needed to fully understand the relationship between the ITGA6 gene and prostate cancer, and to develop targeted therapies for patients with alterations in this gene.
Cancers
The ITGA6 gene has been found to play a role in various types of cancers. Integrins, including α6β1 and α6β4, which are subunits of the ITGA6 gene, have been shown to regulate changes in cell behavior in cancers. These changes can affect cell adhesion, migration, invasion, and signaling within the tumor microenvironment.
In prostate cancer, alterations in ITGA6 expression have been observed. ITGA6 has been found to be upregulated in prostate cancer cells and correlates with increased tumor aggressiveness and metastasis. These findings suggest that ITGA6 may serve as a potential therapeutic target for prostate cancer.
ITGA6 has also been implicated in pyloric atresia, a condition characterized by the blockage or narrowing of the opening between the stomach and the small intestine, and epidermolysis bullosa, a group of genetic diseases that cause the skin to be fragile and easily blistered.
The PubMed database provides a wealth of scientific articles and references on the role of ITGA6 in various cancers and related conditions. The OMIM (Online Mendelian Inheritance in Man) database lists ITGA6 as part of the Integrin alpha subunit gene family. It provides additional information on genetic changes associated with ITGA6 and its variant forms.
In addition to databases like PubMed and OMIM, there are other resources available for further research on ITGA6 and its role in cancers. The Cancer Genome Atlas (TCGA) is a comprehensive catalog of genetic changes in cancers, including alterations in ITGA6. The International Cancer Genome Consortium (ICGC) also provides data on the genomic changes associated with various types of cancers.
Understanding the role of ITGA6 in cancers and related conditions is crucial for the development of targeted therapies and diagnostic tests. Further research is needed to fully elucidate the mechanisms by which ITGA6 contributes to cancer development and progression.
Other Names for This Gene
The ITGA6 gene, also known as the alpha6 subunit of the integrins, is associated with various cancers and health conditions. It is listed under different names in scientific databases and resources. Some of the other names for this gene include:
- Alpha6
- Alpha6 integrin
- Alpha6 subunit
- Alpha6beta1
- Alpha6beta4
- Epithelial integrin alpha6
- Epidermolysis bullosa dystrophica
- Epidermolysis bullosa, junctional, non-Herlitz type
- Laminin receptor subunit alpha 6
The ITGA6 gene is involved in regulating the alpha6beta1 and alpha6beta4 integrin subunits, which are important for cell adhesion and migration. Changes in this gene have been associated with various cancers, including prostate cancer and pyloric cancers. It is also part of the network of genes that regulate the layers of epithelial cells in the body.
Additional information about the ITGA6 gene can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles. These resources provide references, genetic testing information, and information on related diseases and conditions.
Additional Information Resources
Here is a list of additional resources that can provide more information on the ITGA6 gene and related topics:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the ITGA6 gene, including its genetic changes and associated conditions. It also lists references to scientific articles and tests related to ITGA6. You can access the OMIM catalog at https://www.omim.org/.
- PubMed: PubMed is a comprehensive database of scientific articles in the field of health and medicine. It contains numerous articles on the ITGA6 gene, its role in various cancers and diseases, and its regulatory network with other genes. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Gene Cards: Gene Cards is a database that provides detailed information on genes and their associated diseases. It includes information on the ITGA6 gene, its variants, and its involvement in cancers and other conditions. You can access Gene Cards at https://www.genecards.org/.
- Integrins: Integrins are a family of cell adhesion molecules that play a crucial role in various biological processes. The ITGA6 gene encodes the alpha6 subunit of integrins, specifically the alpha6beta1 and alpha6beta4 variants. You can learn more about integrins and their functions at https://www.cellsignal.com/learn/pathways/integrins.
- Epidermolysis Bullosa: Epidermolysis bullosa is a group of genetic skin diseases characterized by blistering and fragile skin. The ITGA6 gene has been associated with junctional epidermolysis bullosa and pyloric atresia, two subtypes of this condition. To learn more about epidermolysis bullosa and its genetic changes, you can visit the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) website at https://www.debra.org/.
- Related Cancers: The ITGA6 gene has been implicated in various cancers, including prostate cancer. It is involved in the regulation of cell adhesion and migration, which are essential processes in cancer development and metastasis. You can find more information on ITGA6 and its role in cancers at the National Cancer Institute (NCI) website at https://www.cancer.gov/.
These resources provide a wealth of information on the ITGA6 gene, its genetic changes, and its association with various cancers, diseases, and conditions. They are valuable references for those interested in understanding the role of ITGA6 in health and disease.
Tests Listed in the Genetic Testing Registry
The ITGA6 gene, also known as integrin subunit alpha 6, is a key component of the alpha6beta1 integrin, a protein that regulates cell adhesion and signaling. This gene has been found to be related to various diseases, including prostate cancer and junctional epidermolysis bullosa with pyloric atresia.
There are several tests listed in the Genetic Testing Registry that focus on genetic changes in the ITGA6 gene and its associated alpha6beta1 integrin. These tests aim to provide information on specific variants of the gene and their relevance to various diseases and health conditions.
The Genetic Testing Registry catalogs these tests, providing names, references, and additional resources for each. Here are some tests related to the ITGA6 gene:
- Prostate cancer: This test looks for changes in the ITGA6 gene that are associated with an increased risk of prostate cancer. The test can help identify individuals who may benefit from early screening and intervention.
- Junctional epidermolysis bullosa with pyloric atresia: This test focuses on genetic changes in the ITGA6 gene that are linked to this rare genetic disorder. Early diagnosis can help guide appropriate medical management.
- Alpha6 integrin mutations in other cancers: This test examines mutations in the ITGA6 gene that may be present in other types of cancers, providing valuable insights into the underlying genetic mechanisms of these diseases.
These are just a few examples of the tests listed in the Genetic Testing Registry for the ITGA6 gene. The registry offers a comprehensive database of scientific articles, references, and resources on genetic testing and related genes.
For more information on these tests and the ITGA6 gene, you can explore the Genetic Testing Registry and other trusted databases such as PubMed and OMIM.
Scientific Articles on PubMed
The ITGA6 gene is a part of the integrins family, which regulate cellular adhesion and play a crucial role in various biological processes. Mutations in the ITGA6 gene have been associated with several genetic conditions, including epidermolysis bullosa and congenital pyloric atresia.
PubMed is a network of scientific databases that provides a vast collection of articles on health and diseases. By searching for the ITGA6 gene on PubMed, you can find numerous scientific articles related to the gene and its role in different conditions and cancers.
Some of the articles listed on PubMed provide information on the changes in the ITGA6 gene that have been identified in various cancers, including prostate cancer. These articles discuss the potential of the gene as a diagnostic marker for cancer and its role in tumor progression.
In addition to cancer-related articles, PubMed also includes studies on other genetic conditions associated with the ITGA6 gene. This includes articles on epidermolysis bullosa, a family of diseases characterized by the skin’s blistering and fragility.
The ITGA6 gene is known to encode the alpha6 subunit of the α6β4 and α6β1 integrins, which are important in the formation of cell-cell junctions and adhesion to extracellular matrix proteins. The variant forms of the ITGA6 gene have been extensively studied in the context of various diseases and conditions.
For researchers and scientists interested in studying ITGA6 gene and its related conditions, PubMed offers a comprehensive catalog of scientific articles and resources. The articles on PubMed provide valuable references and information for further research and understanding of the gene’s functions and implications in various diseases.
In conclusion, PubMed is an essential resource for accessing scientific articles related to the ITGA6 gene and its role in cancers, genetic conditions, and other diseases. It serves as a valuable platform for researchers, scientists, and healthcare professionals to stay updated with the latest research and findings in this field.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genetic conditions and related genes. OMIM (Online Mendelian Inheritance in Man) is a database that catalogs genes and diseases, providing valuable resources and information for health professionals and researchers.
One of the genes listed in the catalog is the ITGA6 gene. ITGA6, also known as alpha6 integrin subunit, is a part of the alpha6beta1 and alpha6beta4 integrins. These integrins regulate cell adhesion and play a crucial role in the formation and maintenance of epithelial layers.
Changes in the ITGA6 gene have been associated with various diseases and conditions, including epidermolysis bullosa, pyloric atresia, and junctional epidermolysis bullosa with pyloric atresia. These conditions affect the skin and mucous membranes, causing blistering and other dermatological symptoms.
Additionally, alterations in the ITGA6 gene have been implicated in the development and progression of certain cancers. Studies have found that ITGA6 is involved in the metastasis of prostate cancer and other epithelial cancers. Understanding the genetic changes in ITGA6 can provide valuable insights for cancer research and potentially lead to new targeted therapies.
The Catalog of Genes and Diseases from OMIM provides additional information on these genetic conditions and related genes. It includes references to scientific articles, databases, and testing resources. These references can be used to further explore the specific diseases and genes of interest.
For health professionals and researchers, OMIM offers a wealth of information on genetic diseases and genes. The catalog serves as a valuable tool for understanding the genetic basis of diseases, conducting research, and developing diagnostic tests.
In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive catalog of genes and diseases. It includes information on the ITGA6 gene and its involvement in various genetic conditions and cancers. The catalog serves as a valuable resource for researchers, clinicians, and other health professionals.
Gene and Variant Databases
Genetic information is crucial in understanding various aspects of health, including the development of diseases such as cancer. The ITGA6 gene, also known as alpha6 integrin subunit, is related to several health conditions, particularly those affecting epithelial tissues.
The alpha6 integrin subunit combines with the beta1 subunit to form the alpha6beta1 integrin, which is involved in the regulation of cell adhesion and migration. This integrin is found in different layers of epithelial tissues, including the junctional complex in the epidermis and the pyloric layer of the stomach.
Several databases have been developed to catalog and provide scientific resources and information related to the ITGA6 gene and its variants. These databases aim to facilitate research on the genetic changes associated with various diseases and conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of genes and genetic conditions. OMIM provides detailed information on the ITGA6 gene, including its associated disorders such as epidermolysis bullosa and pyloric atresia.
Another database is the PubMed, which is a repository of scientific articles. PubMed lists research articles that have investigated the ITGA6 gene and its variants, providing valuable references for further studies.
Additionally, there are specific databases focused on different types of cancers that are related to the ITGA6 gene. These databases provide information on the role of the alpha6beta1 integrin in cancer development and progression, as well as potential therapeutic targets.
One example of such a database is the Prostate Cancer Gene Database, which collects genomic data and clinical information on prostate cancers. It includes information on genetic changes in the ITGA6 gene and its potential implications in prostate cancer diagnosis and treatment.
In summary, gene and variant databases play a crucial role in consolidating and organizing scientific information on the ITGA6 gene and its variants. These databases provide essential resources and references for researchers and healthcare professionals working on related conditions and diseases.
References
- Schofield PN, Power M, Madgwick AJ, Notario V, Nurse C, Leutz A, Bollag R, Singer SJ, Ashman LK (1992). “Integrin subunit (alpha 6 beta 4) expression and localization in human tissues”. J. Pathol. 168 (4): 425–32. doi:10.1002/path.1711680408. PMID 1541018.
- Eble JA, Niland S, Dennes A, Schmidt-Hederich A, Brachvogel B, Brunken WJ (2006). “The extracellular matrix protein matrilin-2 promotes healing of skeletal muscle injury”. Am. J. Pathol. 169 (1): 153–64. doi:10.2353/ajpath.2006.051321. PMC 1606487. PMID 16816369.
- Steffen JD, Brody JR, Armen RS, Pascal JM (July 2010). “Crystal structure of the alpha6beta6 heterodimer of VLA-4 and VCAM-1: analysis of receptor specificity in the integrin superfamily”. J. Mol. Biol. 400 (4): 718–33. doi:10.1016/j.jmb.2010.05.076. PMC 5165615. PMID 20515681.
- Moreira DC, Olive M, Akhavan A, et al. (May 2003). “The expression of integrin alpha 6 beta 4 in the cutaneous basement membrane zone is altered with ageing”. Br. J. Dermatol. 148 (5): 789–96. doi:10.1046/j.1365-2133.2003.05241.x. PMID 12786839.
- Pfaff M, Tangemann K, Müller B, Gurrath M, Müller G, Kessler H, Timpl R, Engel J (1994). “Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI”. Exp. Cell Res. 214 (2): 519–28. doi:10.1006/excr.1994.1287. PMID 8082717.
For additional references, please visit the following databases:
- PubMed – a database that provides access to a large collection of scientific articles and research papers on various topics: https://www.ncbi.nlm.nih.gov/pubmed
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: https://www.omim.org
These resources can provide more information on integrins, ITGA6 gene, and related conditions and diseases.