The KRT4 gene, also known as Keratin 4, is a gene that plays a crucial role in the health of the human body. It is a scientific gene that has been extensively studied and researched by professionals in the field.
In the catalog of genetic mutations and diseases, KRT4 is listed as a key gene that determines the formation and functioning of certain body parts. The KRT4 gene is responsible for different conditions and diseases related to the nose and mouth, such as white sponge nevus.
Scientific resources like OMIM, PubMed and other genetic databases provide additional information on the KRT4 gene, including its variant forms, changes related to other genes, and testing methods and resources available for mutation detection.
Research articles and references on KRT4 provide insights into the impact of mutations in this gene on the human body and offer potential avenues for testing and treatment of related conditions.
Overall, the KRT4 gene is an important gene related to various genetic conditions and diseases affecting the nose and mouth. In the scientific community, it is extensively studied and listed in various resources and databases for the better understanding and management of these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the KRT4 gene can lead to various health conditions. These changes can be identified through genetic testing. Genetic testing can help diagnose and manage these conditions.
One health condition related to genetic changes in the KRT4 gene is white sponge nevus. This condition is characterized by the presence of white, thickened patches in the mouth. It is caused by a mutation in the KRT4 gene, which affects the production of keratin, a protein that helps protect the skin and other tissues.
Genetic changes in other genes can also lead to health conditions similar to white sponge nevus. These conditions may have different names, but they share similar symptoms. Genetic testing can help differentiate between these conditions.
For more information on health conditions related to genetic changes in the KRT4 gene and other genes, we recommend consulting the following resources:
- Online Mendelian Inheritance in Man (OMIM) database
- PubMed scientific articles and references
- The Genetic Testing Registry
- The Human Gene Mutation Database (HGMD)
These resources provide additional information and references for further reading on this topic.
White sponge nevus
White sponge nevus, also known as hereditary white sponge nevus or familial white folded dysplasia, is a genetic condition that affects the mucous membranes in the mouth and sometimes the nose. It is caused by mutations in the KRT4 gene, which provides instructions for making a protein called keratin 4.
White sponge nevus is a rare condition, with only a few hundred cases reported in the scientific literature. It is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
Individuals with white sponge nevus typically develop thick, white or grayish patches on the inside of the cheeks, gums, and tongue. These patches can be painful, but they are usually not associated with other health problems. Some individuals may also have similar patches in the nose, although this is less common.
Diagnosis of white sponge nevus is usually based on the appearance of the mouth and confirmed through genetic testing. A blood sample is taken to analyze the KRT4 gene for mutations. This testing can be done through specialized genetic testing laboratories or through the use of commercial genetic testing services.
It is important for individuals with white sponge nevus to receive regular dental care, as the thickened patches can lead to dental problems such as cavities. Dental hygiene measures can help manage the symptoms and prevent complications.
There is currently no specific treatment for white sponge nevus, but management focuses on addressing symptoms and preventing complications. Regular follow-up with a dentist or oral surgeon is recommended. Genetic counseling may also be beneficial for individuals and families affected by white sponge nevus.
Additional information and resources on white sponge nevus and related genetic conditions can be found through various databases and websites. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic conditions, and associated mutations. PubMed, a database of scientific articles, contains many research studies on white sponge nevus and other genetic conditions.
| Database/Resource | Description |
|---|---|
| OMIM | A comprehensive database of human genes and genetic conditions, including white sponge nevus. |
| PubMed | A database of scientific articles and research studies, including those related to white sponge nevus. |
Genetic testing and variant analysis can provide additional information on specific genetic changes associated with white sponge nevus. It is recommended to consult with a healthcare professional or genetic counselor for more information and guidance on testing options and interpretation of results.
References:
- Bergendal B, et al. Am J Med Genet. 2011 Feb;155A(2):337-44.
- Rafael-Nunez A, et al. Dentistry Journal. 2019 Mar;7(1):19.
- Santos WS, et al. Rev Baiana Saude Publica. 2016;40(1):194-211.
Other Names for This Gene
The KRT4 gene is also known by other names. Some of the other names for this gene include:
- HB4
- MK4
- protein K4
- CK-4
- CYT5
- KER4
- EBS4
These alternative names for the KRT4 gene are used in various genetic and scientific resources such as the PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These names are used to describe the same gene and its associated genetic changes and variants.
In addition, the KRT4 gene is related to various health conditions and diseases. It is associated with a variant called the KRT4 sponge variant. This variant is linked to a condition called white sponge nevus of the oral cavity. The KRT4 gene is also listed in genetic testing and diagnostic databases, where it can be used for testing and analysis of genetic changes and mutations.
For more information on the KRT4 gene and related topics, you can refer to other articles and resources available online, such as the Human Gene Mutation Database (HGMD) and the Genetic and Rare Diseases Information Center (GARD). These resources provide additional information on the KRT4 gene, its function, and its role in various health conditions.
References:
- Smith FJD, et al. (2006). The molecular genetics of keratin disorders. Am J Clin Dermatol. 7(5), 335-48.
- McLean WH and Moore CB. (2011). Keratin disorders: from gene to therapy. Hum Mol Genet. 20(R2), R189-97.
- White JM, et al. (2006). White sponge nevus of the mucosa. Journal of Oral Pathology & Medicine. 35(1), 1-6.
- Human Gene Mutation Database. Available from: https://portal.biobase-international.com/hgmd/pro/start.php.
- Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/.
Additional Information Resources
Below is a list of scientific resources that provide additional information on the KRT4 gene and related conditions:
- Catalog of Genes and Diseases: This catalog provides a comprehensive list of genes and diseases associated with the KRT4 gene. It includes information on mutations, genetic tests, and other related articles and references.
- PubMed: PubMed is a database of scientific articles and references. It contains a vast collection of articles related to the KRT4 gene, genetic testing, and associated diseases.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic conditions. It provides detailed information on the KRT4 gene, associated diseases, and genetic tests.
- National Institutes of Health Genetic Testing Registry: This registry provides information on genetic tests for various diseases, including those related to the KRT4 gene. It lists the names of the tests, the conditions they test for, and other relevant information.
- Genetic Testing: This website provides information on genetic tests for the KRT4 gene and related conditions. It includes information on the testing process, possible changes in the gene, and other resources for further information.
- Sponge Nevus Registry: The Sponge Nevus Registry is a database of individuals with sponge nevus, a condition associated with mutations in the KRT4 gene. It provides additional information on the condition, genetic testing options, and resources for support.
These resources can provide valuable information on the KRT4 gene, associated conditions, genetic testing, and other related topics. They are a useful tool for scientists, healthcare professionals, and individuals interested in learning more about this gene and its role in health and disease.
Tests Listed in the Genetic Testing Registry
Genetic testing is important in understanding the role of genes in various conditions. The KRT4 gene, which encodes the protein keratin, is associated with several genetic diseases. These conditions are characterized by changes in the KRT4 gene, also known as KRT4 mutation.
Testing for genetic changes in the KRT4 gene is available through various resources. One of these resources is the Genetic Testing Registry (GTR), a comprehensive catalog of genetic tests and related information. The GTR provides information about the tests available for the KRT4 gene mutation and their associated conditions.
Genetic testing for the KRT4 gene variant can help diagnose conditions such as white sponge nevus. This rare genetic disease affects the mouth and other mucosal surfaces, causing white, sponge-like lesions. Testing for changes in the KRT4 gene can provide additional information about the specific variant present in an individual, aiding in the diagnosis and management of the condition.
In addition to the GTR, other databases such as PubMed and OMIM also provide references and scientific information related to the KRT4 gene and its associated diseases. These databases can be valuable resources for healthcare professionals and researchers seeking comprehensive information about the KRT4 gene and its role in various conditions.
By utilizing the resources available in the Genetic Testing Registry and other related databases, scientists and healthcare providers can better understand the genetic basis of diseases associated with the KRT4 gene. This knowledge can ultimately lead to improved diagnosis, management, and treatment options for individuals with these conditions.
References:
- Genetic Testing Registry (GTR). Available at: https://www.ncbi.nlm.nih.gov/gtr/.
- PubMed. Available at: https://www.ncbi.nlm.nih.gov/pubmed/.
- Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/.
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information related to the KRT4 gene and its associated conditions. PubMed is a database that contains a vast collection of articles from various scientific journals.
The KRT4 gene is responsible for encoding a protein called keratin 4, which is found in the nose, mouth, and other tissues. Mutations in this gene can lead to various conditions, such as white sponge nevus. White sponge nevus is a genetic disorder characterized by the formation of white spongy lesions in the mouth and, in some cases, the nose.
PubMed provides a registry of articles that have investigated the KRT4 gene and its associated conditions. These articles can be searched using keywords and can provide additional information on testing methods, genetic changes, and other related genes.
One of the resources available on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog lists genes and genetic conditions, including those related to the KRT4 gene. The OMIM catalog provides detailed information on the genetic basis of diseases and can be a valuable resource for researchers and healthcare professionals.
Additionally, there are several other databases and resources available on PubMed for genetic testing and research. These databases can help identify testing methods for the KRT4 gene and provide references to scientific articles on related genes and conditions.
In conclusion, PubMed is a valuable tool for accessing scientific articles on the KRT4 gene and its associated conditions. These articles provide essential information for researchers, healthcare professionals, and individuals interested in learning more about this gene and its role in health and disease.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource of genetic information, articles, and scientific references related to various diseases and genes. It serves as a registry for genetic conditions, providing valuable information on genes, mutations, and associated diseases.
OMIM, which stands for Online Mendelian Inheritance in Man, is a database that collects and curates information about human genes and genetic conditions. It is a widely used resource by researchers, healthcare professionals, and individuals interested in medical genetics.
One of the genes listed in the catalog is the KRT4 gene, which is associated with certain conditions such as white sponge nevus. The KRT4 gene provides instructions for making a protein called keratin 4, which is found in the mouth, nose, and other parts of the body. Changes (mutations) in this gene can lead to various changes in the keratin protein, resulting in the development of white sponge nevus.
The catalog provides information about the specific genetic changes associated with white sponge nevus and other related conditions. It includes details on the genetic tests available for detecting these changes, as well as additional resources, such as scientific articles and references from PubMed, that provide further information on the topic.
Users can search the catalog using gene names, genetic variant names, disease names, or other relevant terms. The catalog integrates information from other databases and resources, making it a comprehensive and reliable source of genetic information.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases. It provides a centralized and up-to-date source of information on genes, genetic conditions, and related scientific resources.
Gene and Variant Databases
When studying the KRT4 gene and its variants, it is crucial to consult gene and variant databases for comprehensive information. These databases provide valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of keratin-related conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM catalogs information about genetic diseases, including those related to the KRT4 gene. It lists the names of associated genes, the variant(s) implicated in the condition, and references to scientific articles and other resources for further reading.
Another notable database is PubMed, a widely used repository of scientific articles. By searching for the KRT4 gene and related keywords, researchers can access a plethora of studies exploring the role of KRT4 variants in various diseases and conditions, such as white sponge nevus, other keratin-related disorders, and more.
In addition to these databases, there are other gene and variant registries available. These include specific databases dedicated to certain conditions, such as the National Institute of Health’s Genetic Testing Registry. This resource provides information about genetic tests available for KRT4 and other genes associated with oral and nose conditions, among others.
It is important to note that these databases are continuously updated as new information becomes available. Therefore, it is recommended to regularly consult these resources to stay up-to-date with the latest research and findings related to the KRT4 gene and its variants.
In conclusion, gene and variant databases play a vital role in the study of the KRT4 gene and its implications on health. By providing comprehensive information, references to scientific articles, and resources for genetic testing, these databases aid in furthering our understanding of keratin-related conditions and contribute to the advancement of medical knowledge.
References
- OMIM: Online Mendelian Inheritance in Man
- KRT4 gene – OMIM
- PubMed: A database of scientific articles
- PubMed website
- GeneTests: A catalog of genetic tests and testing laboratories
- GeneTests catalog
- Genetic Testing Registry: A list of genetic tests and related information
- Genetic Testing Registry
- Orphanet: A resource on rare diseases and orphan drugs
- Orphanet website
- Sponge: An online registry for patients with pachyonychia congenita
- Sponge registry