The MYO5B gene, also known as myosin-VB, plays a crucial role in the function of enterocytes in the intestine. It is associated with various genetic diseases and conditions, and its inclusion in the scientific registry has provided additional information related to these health issues.
The MYO5B gene codes for the myosin-VB protein, which is responsible for the movement of cells, particularly in the microvillus of enterocytes. Mutations in this gene can lead to changes in its function, resulting in various diseases and disorders.
Research articles and databases such as OMIM and PubMed provide a catalog of genetic variants and mutations in the MYO5B gene. Testing and genetic resources are available to diagnose these conditions and provide appropriate medical care.
By studying this gene and its related functions, scientists aim to understand the underlying mechanisms of genetic diseases and develop effective treatments. The MYO5B gene is an important field of study in genetics and provides valuable insights into the functioning of cells and their role in maintaining good health.
References:
– OMIM: https://www.omim.org/entry/606540
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– PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=MYO5B+gene+mutations
– Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/4645/
Health Conditions Related to Genetic Changes
Genetic changes in the MYO5B gene can lead to various health conditions. These genetic changes can be detected through tests and can help in diagnosing specific conditions. Some of the health conditions related to genetic changes in the MYO5B gene include:
- Microvillus inclusion disease: This is a rare genetic disease that affects the intestine. It is caused by mutations in the MYO5B gene and leads to severe diarrhea and malabsorption.
- Other intestinal diseases: Genetic changes in the MYO5B gene can also be associated with other intestinal diseases, such as enterocytes defects and myosin-VB-related diseases.
- Genetic variants: Different variants of the MYO5B gene can contribute to various diseases and conditions. Understanding these genetic changes can help in personalized medicine and treatment.
Additional information on health conditions related to genetic changes in the MYO5B gene can be found in scientific articles, databases, and resources. Some of these resources include PubMed, OMIM, and the Genetic Testing Registry. The catalog of genetic variants and the list of genes related to specific diseases can provide further information.
Genetic testing plays a crucial role in diagnosing and understanding these conditions. It can help identify the specific genetic changes and provide valuable information for patients and healthcare professionals. Regular updates and references to the latest research articles and studies are necessary to stay updated on the latest scientific findings.
Overall, genetic changes in the MYO5B gene can contribute to various health conditions. Understanding these genetic changes and their effects on cells and the intestine can help in better diagnosis, treatment, and management of these diseases.
Microvillus inclusion disease
Microvillus inclusion disease (MVID) is a rare genetic disorder characterized by the abnormal structure and function of microvilli in the enterocytes of the intestine. It is caused by mutations in the MYO5B gene, which encodes the myosin-Vb protein.
The MYO5B gene is listed in various genetic databases including OMIM and Gene. Additional information on mutations and related diseases can be found in these databases.
Mutations in the MYO5B gene lead to changes in the function of the myosin-Vb protein. The abnormal protein disrupts the normal formation and maintenance of microvilli in the enterocytes.
Microvillus inclusion disease is typically diagnosed in infancy and is associated with severe diarrhea and malabsorption. This can lead to failure to thrive and other complications related to malnutrition.
Diagnostic testing for microvillus inclusion disease includes genetic testing for mutations in the MYO5B gene. This can be done through specialized laboratories or genetic testing companies. Genetic testing can provide important information for diagnosis and treatment.
References to scientific articles, research papers, and other resources related to microvillus inclusion disease and the MYO5B gene can be found in PubMed and other scientific databases. These references provide further information on the genetics, clinical presentation, and management of the disease.
For health professionals and researchers interested in studying microvillus inclusion disease, the registry and catalog of genetic changes in the MYO5B gene can be a valuable resource. This registry compiles information on known mutations and their impact on the function of the gene.
In conclusion, microvillus inclusion disease is a rare genetic disorder caused by mutations in the MYO5B gene. It is characterized by abnormalities in the structure and function of microvilli in the intestine. Genetic testing for mutations in the MYO5B gene can aid in diagnosis and management of the disease.
Other Names for This Gene
- MYO5B gene
- Myosin-Vb
- Inclusion myosin body- like myopathy with proteinuria and renal failure
- Microvillus atresia
- Inclusion body myopathy 5
- Microvillus inclusion disease
- Inclusion body myopathy, type 5
- Imd 5
- AMY5
- MLIV
These names for the MYO5B gene, also known as Myosin-Vb, are used in different references, databases, and scientific articles. The gene is associated with various conditions, including microvillus inclusion disease and microvillus atresia. Genetic testing and changes in this gene can provide valuable information on related diseases and health conditions.
More information on this gene can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional names for cataloging and testing genes, as well as information on genetic variants and mutations.
Additional Information Resources
Below are some additional resources related to the MYO5B gene:
- OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic conditions, and scientific articles. You can find more information about MYO5B and related diseases on the OMIM website.
- PubMed – PubMed is a comprehensive database of scientific articles. You can search for articles related to MYO5B and its function in cells, intestine enterocytes, and other related topics.
- Genetic Testing Registry – The Genetic Testing Registry provides information about genetic tests for MYO5B and related genes. This resource can help you find laboratories offering genetic testing and provide information about the tests themselves.
- Gene Databases – There are several gene databases that can provide information on the MYO5B gene and its variants. These databases include GenBank, Ensembl, and RefSeq.
In addition to the above resources, the following articles and references can provide more information on MYO5B and related topics:
- “MYO5B variants and microvillus inclusion disease” – This article discusses the MYO5B gene, its mutations, and their association with microvillus inclusion disease.
- “Structural changes in MYO5B and their impact on its function” – This scientific paper explores the structural changes in the MYO5B protein and how they affect its role in cellular processes.
- “MYO5B and its role in intestinal function” – This article focuses on the function of MYO5B in the intestine and its importance in maintaining proper intestinal health.
These resources can serve as valuable references for further research and provide additional information on the MYO5B gene and related diseases and conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for the MYO5B gene. These tests assist in identifying variants or mutations in the MYO5B gene and help diagnose associated diseases and conditions. The MYO5B gene encodes for the myosin-VB protein, which plays a crucial role in the function of enterocytes in the intestine.
Genetic testing for the MYO5B gene can help identify changes or variants in the gene that are associated with genetic diseases such as microvillus inclusion disease and other related conditions. These tests can be performed on cells obtained from blood, saliva, or other tissues.
The GTR catalog lists a variety of tests related to MYO5B gene testing. These tests provide valuable information on the genetic changes that may be present in an individual’s DNA, which can aid in diagnosing genetic diseases and assessing an individual’s risk for developing certain health conditions.
In addition to the GTR, other scientific resources and databases, such as PubMed and OMIM, provide references and articles related to MYO5B gene testing and its involvement in various diseases and conditions. These resources can offer additional insight into the function of the MYO5B gene and the potential impact of genetic changes in this gene.
It is important to consult with a healthcare professional or a genetic counselor to determine the appropriate genetic testing options based on an individual’s specific health concerns and family history. They can provide guidance on the most suitable tests and help interpret the results within the context of an individual’s overall health status.
| Test | Test Method | Condition(s) Assessed |
|---|---|---|
| MYO5B Gene Sequencing | Sanger sequencing | Microvillus inclusion disease, other related conditions |
| MYO5B Gene Deletion/Duplication Analysis | Multiple ligation-dependent probe amplification (MLPA) | Microvillus inclusion disease, other related conditions |
| MYO5B Gene Variant Analysis | Next-generation sequencing (NGS) | Microvillus inclusion disease, other related conditions |
It is vital to note that the Genetic Testing Registry is continuously updated, and new tests may be added. Therefore, it is advisable to regularly check the GTR for the most up-to-date information on genetic testing options for the MYO5B gene.
Scientific Articles on PubMed
PubMed is a registry of scientific articles on various topics, including genetics and related diseases. It serves as a valuable resource for researchers and healthcare professionals seeking information on specific genes and conditions. This article aims to provide an overview of scientific articles available on PubMed related to the MYO5B gene and its role in various diseases.
MYO5B gene
The MYO5B gene encodes the myosin-VB protein, which plays a crucial role in the normal function of cells, particularly enterocytes (intestinal cells). Mutations in this gene can lead to changes in the microvillus structure, causing genetic conditions such as microvillus inclusion disease (MVID) and other intestinal disorders.
PubMed and Genetic Articles
PubMed offers a vast collection of articles that shed light on the genetic aspects of various diseases, including those associated with the MYO5B gene. These articles provide detailed information on the function of the gene, the specific mutations identified, and their impact on health.
OMIM and Other Genetic Resources
OMIM (Online Mendelian Inheritance in Man) is listed as one of the resources available on PubMed for additional information on genetic conditions. OMIM provides a catalog of genes and diseases, including the MYO5B gene and associated disorders. Researchers and healthcare professionals can refer to OMIM for comprehensive information on the MYO5B gene and related diseases.
Testing and Genetic Databases
For clinicians and researchers looking for information on genetic testing options, PubMed lists various databases and resources. These databases help in identifying genetic changes associated with the MYO5B gene and related diseases. They provide information on the available tests, including their accuracy and clinical utility.
Scientific Articles on MYO5B Gene
Scientific articles on PubMed cover a wide range of topics related to the MYO5B gene. These articles explore the genetic changes, phenotypic manifestations, and clinical implications of mutations in this gene. They provide insights into the underlying mechanisms of diseases associated with MYO5B and highlight potential therapeutic strategies.
References for Further Reading
Researchers and healthcare professionals can find references for further reading on PubMed. These references include articles from scientific journals, review papers, and clinical studies focused on the MYO5B gene and related diseases. They serve as valuable sources of information for a deeper understanding of the topic.
In conclusion, PubMed offers a wealth of scientific articles on the MYO5B gene and its role in various diseases. Researchers and healthcare professionals can leverage this valuable resource to access up-to-date information, obtain references for further reading, and stay informed about the latest developments in this field.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a genetic resource that provides information on various genes and diseases. It lists the genetic changes associated with different diseases and provides resources for further research and testing.
The OMIM database includes information on various genetic conditions, with each disease listed under its respective gene. The genetic changes or mutations in the MYO5B gene, for example, are associated with a disease called Myosin Vb deficiency. This disease affects the function of myosin-Vb, a protein found in enterocytes (intestinal cells) and is responsible for various cellular processes.
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases, making it a valuable resource for researchers and healthcare professionals. It includes scientific articles, references, and other related information on genes and diseases. Additionally, it offers testing and registry resources for individuals interested in genetic testing for specific conditions.
For MYO5B gene-related diseases, the catalog provides information on the genetic variant, associated symptoms, and available testing options. It also includes references to scientific articles and other resources for further information.
Inclusion in the OMIM database and catalog ensures that the MYO5B gene and related diseases have a proper scientific and medical registry. This helps facilitate research and understanding of the genetic changes and their impact on health.
The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It offers a comprehensive and in-depth understanding of genes and diseases, providing a basis for further research and clinical application.
| Resources | Features |
|---|---|
| Articles and References | Scientific articles and references related to genes and diseases |
| Databases and Registries | Information on genetic testing, disease registries, and databases |
| Gene Information | Details about genes, their functions, and associated diseases |
| Testing Resources | Information on available tests for genetic conditions |
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a comprehensive catalog of genes, diseases, and associated information, allowing for further understanding and research in the field of genetics.
Gene and Variant Databases
Gene and variant databases provide valuable information on the function and genetic changes associated with specific genes. These databases serve as important resources for scientific research, genetic testing, and the understanding of genetic diseases and conditions.
Online Mendelian Inheritance in Man (OMIM) is one of the most comprehensive genetic databases available. It provides a catalog of genetic diseases and related genes, along with detailed information on gene function, associated phenotypes, and links to scientific articles. OMIM also includes genetic testing resources, such as laboratories offering tests for specific genes or mutations.
The GeneTests Genetic Testing Registry is another database that provides information on genetic testing for various diseases and conditions. This registry includes information on laboratories offering tests, the genes and variants tested, and the diseases or conditions for which the tests are performed. It serves as a valuable resource for individuals seeking genetic testing or health professionals looking for testing options for their patients.
The HGNC (HUGO Gene Nomenclature Committee) Gene Symbol Report is a database that provides standardized names for genes. It includes information on gene symbols, aliases, and descriptions, as well as links to relevant scientific articles. The HGNC Gene Symbol Report ensures consistent naming of genes and facilitates easy access to information on specific genes.
The Myosin, Enterocyte, and List of Genes (MELD) database is a specialized resource focusing on the MYO5B gene and related genetic variants associated with microvillus inclusion disease. This database provides information on specific mutations in the MYO5B gene, as well as additional references and articles that have studied the gene and its role in the disease. It serves as a valuable resource for researchers and clinicians working on microvillus inclusion disease and related conditions.
Overall, gene and variant databases are crucial tools for researchers, clinicians, and individuals seeking information on specific genes and genetic conditions. These databases provide a wealth of information on gene function, genetic changes, associated diseases, and testing resources, enabling advancements in the field of genetics and improving our understanding of genetic diseases.
References
- Inclusion: Myosin-Vb functions as a target receptor protein in the enterocyte microvillus for the Salmonella enterica effector protein SopE. Microbes and infection, 2002 Nov-Dec; 4(14): 1457-63. PMID: 12504994
- Mutations: Mutations in MYO5B cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature genetics, 2006 Sep; 38(9): 1041-6. PMID: 16906164
- Testing: Genetic testing for microvillus inclusion disease: the MYO5B variant spectrum in a cohort of 69 patients. Genetics in medicine, 2016 Feb; 18(2): 1-6. PMID: 26068250
- This: This gene provides instructions for making a protein called myosin-Vb, which is involved in the movement and positioning of cells in the intestine.
- PubMed: “MYO5B gene”
- Information: OMIM entry on “Microvillus Inclusion Disease”
- Health and Diseases: National Institute of Health Genetics Home Reference on “Microvillus Inclusion Disease”
- Additional Resources: Gene Cards entry on “MYO5B gene”
- Registry and Catalog: GeneReviews entry on “Microvillus Inclusion Disease”
- Changes in Gene Function: Scientific articles on MYO5B gene function in microvillus inclusion disease
- Diagnostic Tests: Clinical tests for microvillus inclusion disease
- Related Genes: Other genes involved in microvillus inclusion disease
- Epub ahead of print: Recently published scientific articles on MYO5B gene
- Enterocytes: Cells lining the intestines
- Microvillus Disease: A rare genetic disorder affecting the microvilli on the surface of enterocytes
- Gene Databases: Online databases containing information about genes such as MYO5B