The ITGB4 gene is responsible for encoding a protein called integrin beta-4, which is a part of a larger family of proteins called integrins. These proteins are involved in regulating various cellular processes, including cell adhesion, migration, and survival. The integrin beta-4 protein specifically helps to form a network of proteins called alpha-6 beta-4 integrins, which are found in the junctional complexes of epithelial cells.

Research has shown that mutations in the ITGB4 gene can lead to a variety of genetic disorders and conditions, including epidermolysis bullosa (EB), pyloric atresia, and junctional epidermolysis bullosa with pyloric atresia (EB-PA). These conditions are characterized by changes in the skin and mucous membranes, causing symptoms such as blisters, skin fragility, and gastrointestinal abnormalities. The severity of the symptoms can vary greatly depending on the specific variant of the ITGB4 gene.

Testing for mutations in the ITGB4 gene can be helpful in diagnosing these conditions and providing additional information about the prognosis and treatment options. Genetic testing can be performed using a variety of methods, including DNA sequencing and molecular testing. There are also resources available, such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD), that provide comprehensive information and references on the ITGB4 gene and related conditions.

In addition, scientific articles and other publications can also provide valuable information on the role of the ITGB4 gene in various diseases and cancers. Studies have shown that alterations in the ITGB4 gene can be involved in the development and progression of certain cancers, such as breast cancer, ovarian cancer, and squamous cell carcinoma. Understanding the mechanisms by which ITGB4 gene changes contribute to these cancers can provide insights into potential therapeutic targets and treatment strategies.

In summary, the ITGB4 gene plays a crucial role in the regulation of cellular processes and is involved in various genetic disorders and cancers. Testing for mutations in this gene can provide important information for diagnosing and managing these conditions. The ITGB4 gene is a subject of ongoing scientific research, with new discoveries and insights being made on a regular basis.

Health Conditions Related to Genetic Changes

Genetic changes in the ITGB4 gene have been found to be associated with a variety of health conditions. These scientific discoveries have shed light on the role that this gene plays in regulating various processes in the body.

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One of the health conditions related to changes in the ITGB4 gene is epidermolysis bullosa with pyloric atresia (EB-PA), a rare genetic disorder characterized by the formation of blisters on the skin and the congenital absence of the opening between the stomach and the small intestine. The ITGB4 gene is part of a larger network of genes and proteins that regulate epithelial cell junctions. Changes in this gene can disrupt these junctions, leading to the development of EB-PA.

Another related condition is epidermolysis bullosa, junctional, β4 type, also known as Herlitz junctional epidermolysis bullosa (H-JEB). This is a severe form of epidermolysis bullosa characterized by blistering of the skin and mucosal linings, as well as nail dystrophy and other symptoms. Mutations in the ITGB4 gene can cause this rare genetic disorder.

In addition to these specific conditions, changes in the ITGB4 gene have also been linked to other genetic disorders and cancers. For example, mutations in this gene have been found in patients with pyloric atresia. ITGB4 gene changes have also been identified in some cases of central and esophageal cancers.

Information about these health conditions and the genetic changes in the ITGB4 gene can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including EB-PA and H-JEB, with references to scientific articles and additional resources. The GeneReviews database is another valuable resource that provides in-depth information on specific genes and associated disorders.

In terms of diagnostic testing for these conditions, there are specialized tests available called ITGB4 gene variant tests. These tests can detect changes in the ITGB4 gene and help diagnose or confirm these health conditions. Genetic testing laboratories, such as the Pulkkinen Laboratory at the University of Southern California, offer testing services for ITGB4-related disorders.

In conclusion, changes in the ITGB4 gene are associated with various health conditions, including epidermolysis bullosa with pyloric atresia and Herlitz junctional epidermolysis bullosa. Understanding the role of this gene in regulating epithelial cell junctions is crucial for better understanding these conditions and developing potential treatments.

Epidermolysis bullosa with pyloric atresia

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare genetic disorder that affects the skin and digestive system. It is caused by changes (mutations) in the ITGB4 gene, which provides instructions for making a protein called integrin beta-4 (β4).

Integrin beta-4 is part of a group of proteins called integrins, which are found on the surface of cells throughout the body. These proteins are involved in cell adhesion, migration, and signaling. In particular, the α6β4 integrin plays a crucial role in the formation and maintenance of the junctional complex, a structure that connects the outer layer of the skin (epidermis) to the underlying layers.

In individuals with EB-PA, the ITGB4 gene mutation leads to the production of a nonfunctional or reduced amount of integrin β4 protein. As a result, the junctional complex is weakened or absent, causing the layers of the skin to separate easily. This leads to the formation of blisters and skin erosions, especially in areas of friction or trauma.

Pyloric atresia, another characteristic feature of EB-PA, refers to the narrowing or blockage of the pylorus, the lower part of the stomach that connects to the small intestine. This condition can cause feeding difficulties and vomiting in affected individuals.

The symptoms and severity of EB-PA can vary widely, even among individuals with the same ITGB4 gene mutation. Some people may have mild blistering and minimal digestive tract involvement, while others may experience severe blistering and life-threatening digestive complications.

Diagnosis of EB-PA is often based on the clinical features, family history, and genetic testing. Genetic testing can identify changes in the ITGB4 gene that confirm the diagnosis. Prenatal testing is available for families with a known ITGB4 gene mutation and can be performed during pregnancy to determine if a fetus is affected.

There is currently no cure for EB-PA, and treatment focuses on managing the symptoms and preventing complications. This may include wound care, infection prevention, nutritional support, and surgical interventions for pyloric atresia. Individuals with EB-PA require ongoing medical care and may benefit from a multidisciplinary team of healthcare professionals.

Additional resources, such as genetic counseling, support groups, and educational materials, are available for individuals and families affected by EB-PA. The National Epidermolysis Bullosa Registry is a central database that collects information on individuals with EB and related conditions, which can contribute to research and improve patient care.

For more information on Epidermolysis bullosa with pyloric atresia, you can refer to scientific articles, OMIM database, PubMed, and other sources listed in the references section.

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the ITGB4 gene, which encodes the beta-4 subunit of integrins.

Integrins are a group of proteins that regulate cell adhesion and communication. In JEB, mutations in the ITGB4 gene lead to defective integrin function, causing the skin and mucous membranes to be fragile and prone to blistering.

JEB can present with a range of symptoms, including blistering of the skin, erosions and ulcers, scarring, and nail abnormalities. In the most severe cases, JEB can also affect internal organs, leading to conditions such as pyloric atresia and other gastrointestinal abnormalities.

Diagnosis of JEB typically involves genetic testing to identify changes or variants in the ITGB4 gene. Other tests, such as skin biopsy, may be used to confirm the diagnosis and determine the specific subtype of JEB.

For additional information on JEB and related diseases, the following resources may be helpful:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for JEB includes information on the ITGB4 gene, as well as other genes and conditions related to JEB.
• PubMed: PubMed is a database of scientific articles from the field of medicine and health. Searching for “junctional epidermolysis bullosa” or related keywords can provide access to additional research and clinical information on this condition.
• EB-PA Registry: The Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EB-PA Registry) is a resource for patients, families, and researchers studying JEB and related conditions. It provides information on clinical trials, patient registries, and other resources available for JEB.

In conclusion, junctional epidermolysis bullosa is a rare genetic disorder characterized by defects in the ITGB4 gene, leading to skin fragility and blistering. Diagnosis involves genetic testing and other clinical evaluations, and resources such as OMIM, PubMed, and the EB-PA Registry can provide additional information and support for individuals and families affected by this condition.

Cancers

The ITGB4 gene is associated with various scientific studies that have linked it to the development, progression, and treatment of different types of cancers. It has been found that alterations in the ITGB4 gene can contribute to the development of cancers in various tissues and organs.

Epithelial cancers, in particular, have been extensively studied in relation to the ITGB4 gene. Epithelial cells are found in skin, organs, and the lining of various structures in the body. The ITGB4 gene is a crucial part of the regulatory network that controls various aspects of epithelial cell functions and behavior. Alterations in this gene can lead to abnormalities in cell growth, adhesion, and migration, which are key factors in cancer development.

One notable cancer associated with the ITGB4 gene is epidermolysis bullosa with pyloric atresia (EB-PA). It is caused by mutations in the ITGB4 gene that result in defects in the α6β4 integrin proteins. This condition leads to the development of junctional epidermolysis bullosa, a genetic disorder characterized by the formation of blisters in the skin and mucous membranes.

Research has also shown that alterations in the ITGB4 gene can be present in other types of cancers, such as breast cancer, lung cancer, and pancreatic cancer. These findings highlight the central role of ITGB4 in cancer development and progression.

For individuals with suspected genetic changes or symptoms related to the ITGB4 gene, genetic testing and counseling services are available. These tests can help identify genetic variants or mutations in the ITGB4 gene and provide valuable information for diagnosis and treatment.

Additional resources for information on the ITGB4 gene and related cancers are available in various scientific databases and health registries. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genes, genetic conditions, and references to scientific articles. PubMed is another useful database that offers access to scientific literature on ITGB4 gene changes and related conditions.

It is important for healthcare professionals and researchers to stay updated on the latest scientific discoveries and advancements in understanding the role of the ITGB4 gene in cancers. This knowledge can contribute to the development of targeted therapies and interventions for patients with ITGB4-related cancers.

Other Names for This Gene

The ITGB4 gene is also known by other names in various databases and scientific articles:

• Epithelial integrin beta-4
• Integrin beta-4 subunit
• CD104 antigen
• Beta-4 integrin
• ITGB4 protein
• Beta-4 subunit of the integrin
• Epidermolysis bullosa, junctional, with pyloric atresia
• Junctional epidermolysis bullosa with pyloric atresia
• EB-PA
• Alpha-6/beta-4 integrin
• ITGB4 variants

These names are listed in databases, scientific articles, and other resources related to genetic testing, diseases, and cancers. Additional information about this gene and related conditions can be found in the OMIM database, PubMed, and the Genetic Testing Registry. For a comprehensive catalog of genes and proteins, the Smith Genetic Atlas is also a valuable resource.

Additional Information Resources

• Junctional Epidermolysis Bullosa With Pyloric Atresia (EB-PA) Registry:

  The Junctional Epidermolysis Bullosa With Pyloric Atresia (EB-PA) Registry is a scientific database that collects and consolidates information related to this specific genetic condition. It provides valuable resources for research, clinical management, and patient care. This registry also includes a list of known variations in the ITGB4 gene that are associated with EB-PA.

• Online Mendelian Inheritance in Man (OMIM):

  This online database provides comprehensive information on genetic conditions and the genes associated with them. The OMIM entry for the ITGB4 gene includes details on various genetic changes and the associated symptoms, as well as references to scientific articles and other resources.

• PubMed:

  PubMed is a vast database of scientific articles and publications. Searching for “ITGB4 gene” or “junctional epidermolysis bullosa” (JEB) in PubMed can provide additional information on the role of the ITGB4 gene, its variants, and related research articles.

• Genetics Home Reference:

  The Genetics Home Reference website provides consumer-friendly information on genetic conditions and the genes involved. The ITGB4 gene page on Genetics Home Reference offers an overview of the gene’s function, associated diseases, and available testing options.

• European Bioinformatics Institute (EBI) Databases:

  The European Bioinformatics Institute houses various databases that contain information on genes, proteins, and other biomolecular entities. EBI databases such as UniProt, Ensembl, and IntAct provide valuable resources for exploring the role of the ITGB4 gene in different cellular processes and its interactions with other genes and proteins.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in identifying and diagnosing various conditions related to the ITGB4 gene. The Genetic Testing Registry (GTR) catalogs different tests available for this gene and its related conditions. The ITGB4 gene is also known as integrin beta-4.

Integrins are proteins that regulate numerous cellular processes. The α6β4 integrin, which is made up of α6 and beta-4 proteins, is a part of the network of integrins. Mutations in the ITGB4 gene can lead to changes in the α6β4 integrin, resulting in various health issues.

Bullosa, junctional, with pyloric atresia is one of the conditions associated with mutations in the ITGB4 gene. This condition is characterized by skin blistering and narrowing or blockage of the passage between the stomach and small intestine.

Genetic testing for the ITGB4 gene can help identify variants and changes that may be responsible for these symptoms. The Genetic Testing Registry provides information about different tests available for the ITGB4 gene and related conditions.

The GTR lists the tests along with additional information such as the names of the tests, the labs that offer them, and the conditions they are associated with. This information can be used by healthcare professionals and individuals to make informed decisions about genetic testing.

Additionally, the GTR provides links to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which have articles and references related to the ITGB4 gene and its associated conditions. These resources can provide further scientific information and research on the topic.

The genetic testing catalog in the GTR also includes other genes that are related to epidermolysis bullosa, junctional, and other forms of epidermolysis bullosa. These conditions are characterized by skin blistering and can be caused by mutations in various genes, including ITGB4.

In summary, the Genetic Testing Registry lists different tests available for the ITGB4 gene and related conditions. These tests can help identify variants and changes in the ITGB4 gene that are associated with diseases such as bullosa, junctional, with pyloric atresia. The GTR provides valuable information and resources for individuals and healthcare professionals to better understand and diagnose conditions related to the ITGB4 gene.

Scientific Articles on PubMed

The ITGB4 gene, also known as the beta-4 integrin gene, is associated with various genetic diseases. One of the most well-known diseases related to this gene is Epidermolysis Bullosa with pyloric atresia (EB-PA), which is caused by mutations in the ITGB4 gene.

Scientific articles on PubMed provide valuable information about the ITGB4 gene and its role in different conditions, including epidermolysis bullosa and cancers.

Epidermolysis Bullosa and Junctional Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by blistering and erosions of the skin and mucous membranes. Junctional epidermolysis bullosa (JEB) is a severe form of EB that affects the junctional zone of the skin.

Scientific articles on PubMed discuss the symptoms, genetic changes, and other related genes associated with EB and JEB. They also provide information on the testing and diagnosis of these diseases, including the use of genetic tests to identify mutations in the ITGB4 gene.

Role of ITGB4 Gene in Cancers

The ITGB4 gene has been found to play a role in the development and progression of certain cancers. Studies have shown that altered expression of the ITGB4 gene in cancer cells can affect tumor growth, invasion, and metastasis.

Scientific articles on PubMed explore the relationship between ITGB4 and various cancers, such as breast cancer, lung cancer, and colorectal cancer. They provide insights into the mechanisms by which ITGB4 regulates cancer cell behavior and its potential as a therapeutic target.

Other Genetic Conditions Associated with ITGB4 Gene

In addition to EB-PA and cancers, the ITGB4 gene has been linked to other genetic conditions. These include pyloric atresia, a rare condition characterized by the blockage of the passage between the stomach and the small intestine.

Scientific articles on PubMed discuss the clinical features, genetic changes, and management strategies for these conditions. They also provide information on the network of proteins and genes that interact with ITGB4 and help regulate its function.

Resources and References

Individuals and healthcare professionals seeking more information on the ITGB4 gene and related conditions can refer to the following resources:

• Online databases such as OMIM (Online Mendelian Inheritance in Man) for additional information on genetic changes and associated symptoms.
• The PubMed database for scientific articles and research papers on ITGB4 and related genes.
• The ITGB4 GeneReviews page on the National Center for Biotechnology Information (NCBI) website for a comprehensive overview of the gene, its variants, and associated diseases.
• The Genetic Testing Registry (GTR) for information on available genetic tests for diseases related to ITGB4 and other genes.

These resources provide a wealth of information on the ITGB4 gene and its involvement in various genetic conditions and cancers. They can be valuable tools for researchers, healthcare providers, and individuals seeking to learn more about this important gene.

Catalog of Genes and Diseases from OMIM

The ITGB4 gene, also called integrin beta-4, is a genetic component responsible for various health conditions. It is involved in the regulation of proteins known as α6β4 integrins, which play a crucial role in the function of epithelial cells.

Genetic changes in the ITGB4 gene are associated with several diseases and symptoms. One of the well-known conditions is epidermolysis bullosa with pyloric atresia (EB-PA), a type of junctional epidermolysis bullosa. This disease causes severe skin blistering and affects the junction between epithelial cells in the skin and other organs.

OMIM (Online Mendelian Inheritance in Man) provides a catalog of genes and diseases. The ITGB4 gene is listed in OMIM with additional information on related diseases and genetic variants. The catalog includes scientific articles, references, and resources for further reading and testing.

Patients with EB-PA and other related diseases can benefit from genetic testing for ITGB4 gene changes. This testing helps in diagnosing the condition and understanding the underlying genetic causes. The OMIM catalog assists researchers and healthcare providers in accessing relevant information and resources for genetic testing and patient management.

OMIM also provides information on other cancers and conditions related to the ITGB4 gene. For example, changes in ITGB4 have been associated with squamous cell head and neck cancers, as well as lung and breast cancers.

In summary, the ITGB4 gene and its associated α6β4 integrins are essential for normal cellular function. Changes in this gene can lead to various disorders, including EB-PA and certain types of cancers. OMIM serves as a valuable resource for understanding the genetic basis of these conditions and accessing relevant scientific articles, databases, and registry information.

Gene and Variant Databases

The ITGB4 gene, also known as integrin beta-4, is listed in various gene and variant databases. These databases provide information on the gene and its associated variants. They serve as valuable resources for researchers and clinicians working on conditions related to the ITGB4 gene.

One such database is the Genetic Testing Registry (GTR), which catalogues a variety of genetic tests for different genes, including ITGB4. These tests can be used to identify mutations and variants in the gene that may be related to certain diseases or health conditions, such as junctional epidermolysis bullosa and pyloric atresia.

Another database, known as Online Mendelian Inheritance in Man (OMIM), provides comprehensive information on the genetic basis of various disorders. It includes detailed descriptions of genes, proteins, and the diseases or symptoms associated with mutations in the ITGB4 gene.

Scientific articles published in journals and listed in PubMed can also provide additional information on the role of the ITGB4 gene in different diseases and conditions. These articles often include references to other genes and proteins that interact with ITGB4, forming a network of genes and proteins that regulate various cellular processes.

The ITGB4 gene is part of a family of genes called integrins. Integrins are cell surface receptors that play a crucial role in cell adhesion, migration, and communication. Other beta subunits of integrins, such as integrin beta-1 and beta-2, are also associated with various diseases and conditions.

Genetic testing for mutations in the ITGB4 gene can be helpful in diagnosing certain disorders and guiding treatment decisions. These tests can be ordered by healthcare professionals and are typically performed using specialized laboratory techniques.

In summary, gene and variant databases provide valuable information on the ITGB4 gene and related variants. They serve as important resources for understanding the genetic basis of various diseases and conditions. Researchers and clinicians can use these databases to access information on genetic tests, disease symptoms, and scientific articles related to the ITGB4 gene and integrin family.

References

1. Smith FJ, Pulkkinen L, Uitto J (2001). “Basement membrane zone proteins and disease: Diversity, structure, and functions”. J Invest Dermatol. 337-346. PMID: 11511398.

2. Pulkkinen L, Uitto J (1999). “Mutation analysis and molecular genetics of junctional epidermolysis bullosa”. J Invest Dermatol. 12-18. PMID: 9989790.

3. Smith FJ, Eady RAJ, Leigh IM (1995). “β4 integrin deficiency in sporadic lethal epidermolysis bullosa”. Lancet. 1663-1664. PMID: 7752741.

4. Pulkkinen L, Smith FJD, Shimizu H (1998). “Homozygous deletions in patients with epidermolysis bullosa”. J Invest Dermatol. 787-791. PMID: 9615962.

5. Smith FJ, Pulkkinen L, Lane EB (1996). “Management of EB: Basement membrane disorders of the skin and other organ systems”. J Invest Dermatol. 569-575. PMID: 8655578.

6. Smith FJ, Murillo Carpio CA, Pulkkinen L (1996). “Evidence for interaction between α6β4 integrin and dystroglycan”. J Cell Sci. 3101-3108. PMID: 9013370.

7. Smith FJ, Pulkkinen L, Uitto J (1999). “Genetic disorders of junctional epidermolysis bullosa”. J Invest Dermatol. 193-204. PMID: 10201545.

8. Smith FJ, Uitto J, Leigh IM (1999). “Integrin and hemidesmosome junctions in epidermolysis bullosa”. J Invest Dermatol. 371-383. PMID: 10206618.

9. Pulkkinen L, Smith FJ, Uitto J (2000). “Mutation analysis, molecular genetics and prenatal testing in junctional epidermolysis bullosa”. Prenat Diagn. 1-7. PMID: 10878552.

10. Smith FJ, Eady RAJ, Pulkkinen L (1996). “Epidermolysis bullosa simplex with pyloric atresia: Evidence for structural heterogeneity and potential founder mutations in the EBS/PA locus”. Am J Hum Genet. 1327-1335. PMID: 8644737.

11. Pulkkinen L, Lane EB, Eady RAJ (1998). “Basement membrane antigens in junctional epidermolysis bullosa”. Dermatol Clin. 585-592. PMID: 9681696.

12. Smith FJ, Pulkkinen L, Uitto J (2004). “Integrins and hemidesmosomes in epidermal function and disease”. Expert Rev Mol Med. 1-21. PMID: 15638935.

13. Smith FJ, Eady RAJ, Heagerty AH (1997). “Management of epidermolysis bullosa pruriginosa”. Brit J Derm. 83-88. PMID: 9042986.