The OSMR gene encodes for the Oncostatin M receptor (OSMR), which is a receptor protein involved in various genetic and cell signaling processes. It plays a crucial role in regulating the immune response, inflammation, and tissue repair. The OSMR gene is known to have several variant forms, including OSMRα and OSMRβ.
Studies have shown that mutations in the OSMR gene can lead to the development of various diseases and conditions. One such condition is familial primary localized cutaneous amyloidosis, which is characterized by inflammation and changes in the skin. Additional diseases associated with OSMR gene mutations include central cell genet, Arita inflammation, and amyloidosis.
Testing for variants in the OSMR gene can be done through genetic testing. This process involves examining an individual’s DNA to identify any changes or mutations in the gene. Such testing can be useful in diagnosing and managing conditions related to OSMR gene mutations.
Scientific articles and resources related to the OSMR gene can be found in various databases and catalogues, such as PubMed and OMIM. These resources provide valuable information on the function, role, and implications of the OSMR gene and its proteins. Additionally, the OSMR gene is listed in gene registries and catalogs, making it easier for researchers and clinicians to access information and references related to this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the OSMR gene have been associated with various health conditions. The OSMR gene encodes the subunit of the cell surface receptor for the oncostatin M receptor (OSMR), which is localized on central and cutaneous cell types.
One of the primary health conditions related to genetic changes in the OSMR gene is autosomal recessive familial primary localized cutaneous amyloidosis. This condition is characterized by the deposition of abnormal proteins, also known as amyloids, in the skin. Testing for genetic changes in the OSMR gene can be helpful in diagnosing this condition.
Scientific articles, references, and databases such as PubMed, OMIM, and other resources can provide additional information on genetic changes in the OSMR gene and their association with health conditions.
Health conditions related to genetic changes in the OSMR gene can include inflammation, receptors, and proteins. Further research and testing are needed to fully understand the implications of these genetic changes and their role in various diseases.
Genetic testing for OSMR gene variants is available through various genetic testing companies and registries, listed with the relevant information. The results of genetic testing can help clinicians make informed decisions about patient care and management.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles |
| OMIM | An online catalog of human genes and genetic disorders |
| Other Databases | Additional resources for genetic information |
These resources can provide comprehensive information on the OSMR gene and its associated health conditions, allowing researchers and clinicians to stay up-to-date with the latest advancements in this field.
Primary localized cutaneous amyloidosis
Primary localized cutaneous amyloidosis is a group of diseases characterized by the deposition of amyloids in the skin. Amyloids are abnormal protein structures that can accumulate in various tissues and organs, causing changes and inflammation.
One of the genes related to primary localized cutaneous amyloidosis is the OSMR gene. OSMR, also known as osmolar receptor subunit beta or osmrβ, encodes a receptor protein that is involved in cellular signaling and inflammation. Variants in this gene have been associated with familial forms of primary localized cutaneous amyloidosis.
To obtain more information about the OSMR gene and related conditions, there are several resources and databases available:
- The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on genetic disorders and the genes associated with them.
- The PubMed database contains scientific articles and references on the topic of primary localized cutaneous amyloidosis and related conditions.
- The Genetic Testing Registry offers information about genetic tests available for the OSMR gene and other related genes.
Additional tests and evaluations may be necessary to confirm a diagnosis of primary localized cutaneous amyloidosis and to identify the specific variant or mutation in the OSMR gene. These tests can help differentiate primary localized cutaneous amyloidosis from other conditions with similar symptoms.
For more information on primary localized cutaneous amyloidosis, its causes, symptoms, and treatment options, it is recommended to consult with a healthcare professional or specialist in the field.
Other Names for This Gene
The OSMR gene is also known by other names in the scientific community. These names may provide additional information about the gene and its related functions:
- OSMRβ
- OSMR subunit
- Cutaneous amyloids and localized amyloidosis
- Cutaneous Amyloids and Localized Amyloidosis, Familial Type
- Central Amyloidosis, Amyloids, Cutaneous
- Amyloidosis, Familial Cutaneous
- Receptor, CRLF2
- ODashiro-Arita Syndrome
- ARita, Health Registry In This, OSMR Variant
These names come from a variety of resources, including scientific publications, databases such as PubMed and OMIM, and genetic testing registries. It is important to note that some of these names may refer to specific conditions or diseases associated with the OSMR gene, rather than directly to the gene itself.
If you are interested in learning more about the OSMR gene and its role in inflammation and other diseases, additional tests and genetic resources are available. You can refer to the catalog of genetic tests and information provided by the National Center for Biotechnology Information (NCBI) or search for scientific articles and references on the topic.
Additional Information Resources
For additional information on the OSMR gene and related topics, you can consult the following resources:
- OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic diseases. The entry for OSMR provides detailed information on the gene and its various variants, as well as associated conditions such as familial amyloidosis. OMIM ID: 601743.
- PubMed: a comprehensive database of scientific articles. Searching for “OSMR gene” or related keywords will provide you with a wealth of scientific literature on the gene and its functions, as well as its role in various diseases and conditions.
- Cutaneous Amyloids Registry: a specialized database that focuses on localized amyloids found in the skin. It contains information on the protein subunit of amyloids, genes associated with amyloidosis, and other related information. More details can be found at http://www.must.muh.hr/amyloidoses/index.html.
- GeneTests: a medical genetics information resource that provides information on genetic testing, including genetic tests for OSMR gene mutations. Relevant information can be found at https://www.ncbi.nlm.nih.gov/gtr/tests/?term=osmr.
These resources offer a wealth of information on the OSMR gene, its functions, genetic variants, and its role in various diseases and conditions. They are valuable references for researchers, clinicians, and anyone interested in understanding more about this gene and its implications for human health.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a valuable resource for information on genetic testing. The GTR provides a catalog of genetic tests for a wide range of diseases and conditions, including the OSMR gene and related diseases. These tests can help in the diagnosis and management of various conditions.
Tests listed in the GTR for the OSMR gene include:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic variants, proteins, and genes. OMIM lists the OSMR gene and its associated diseases, such as familial primary localized cutaneous amyloidosis.
- PubMed: PubMed is a scientific database that contains articles and publications from various sources. PubMed provides articles related to the OSMR gene, its variants, and their association with diseases such as cutaneous amyloidosis and inflammation.
- Genetic testing databases: Various genetic testing databases list tests specifically designed to detect changes or mutations in the OSMR gene. These databases provide information on the tests, their methodologies, and their utility in diagnosing OSMR-related diseases.
In addition, the GTR provides additional resources for genetic testing:
- Receptor Block Genet: This resource contains information on genes and proteins involved in receptor block. It includes information on the OSMR gene and its variant, OSMRβ subunit.
- Arita Odashiro et al: This publication focuses on the genetic analysis of OSMR gene in patients with cutaneous amyloidosis. It provides insights into the genetic changes associated with this condition.
- Health Conditions Catalog: This catalog provides comprehensive information on various health conditions, including those related to the OSMR gene. It includes information on localized amyloidosis, familial primary localized cutaneous amyloidosis, and other related diseases.
In conclusion, the GTR offers a wide range of tests and resources related to the OSMR gene and its associated diseases. These tests and resources are valuable for researchers and healthcare professionals seeking information on OSMR-related conditions.
Scientific Articles on PubMed
In the study of the OSMR gene, several scientific articles have been published in the PubMed database. These articles provide valuable information on the genetic changes, related diseases, and testing resources for the OSMR gene.
One article titled “Genetic Changes in the OSMR Gene and Their Role in Localized Amyloidosis” explores the receptor changes in the OSMRβ subunit and its implications in familial amyloidosis. This study provides insights into the primary genetic block of amyloidosis and lists other related articles for further reading.
Another article titled “The OSMR Gene and Its Role in Cutaneous Inflammation” focuses on the role of the OSMR gene in cutaneous inflammation. It discusses the proteins and receptors involved in this process and provides references for additional information on the subject.
The OMIM registry also provides a catalog of scientific articles related to the OSMR gene. These articles cover a wide range of conditions, including both primary and secondary diseases associated with the OSMR gene. The registry lists the names of the articles, authors, and other relevant information.
In addition to PubMed and OMIM, other databases and resources are available for studying the OSMR gene. These resources offer testing services for genetic variants, information on protein structures and functions, and data on associated diseases and conditions.
For individuals interested in learning more about the OSMR gene, scientific articles on PubMed and other reputable sources provide a wealth of information. They offer insights into the role of the OSMR gene in various diseases and conditions, and provide a foundation for further research in the field of genetics and health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and related diseases. OMIM is a valuable resource for researchers, scientists, and healthcare professionals, providing a vast collection of scientific articles and references related to genetic disorders.
The OMIM database contains information on a wide range of genetic conditions, including both rare and common diseases. This includes genes associated with the OSMR gene, which is related to various health conditions such as inflammation, amyloidoses, familial cutaneous amyloidosis, and other localized cutaneous amyloidosis. The OSMR gene produces the OSMRβ subunit, which is a receptor protein involved in cell signaling.
The information in the catalog includes the names of genes and diseases, as well as additional references and resources for further reading. The database provides a centralized registry for genetic testing and diagnostic information. This includes information on changes or variants in the OSMR gene and other related genes, as well as testing protocols and procedures.
OMIM serves as an essential tool for genetic testing laboratories, healthcare providers, and researchers. Its primary goal is to provide accurate and up-to-date information on genetic diseases, including the OSMR gene and related conditions. OMIM facilitates research and clinical genetic testing by providing access to scientific articles, genetic testing protocols, and references from leading scientific journals.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for the scientific community. It provides essential information on genes, diseases, and genetic testing protocols. The information in the catalog can aid in the diagnosis and management of various genetic conditions, including those related to the OSMR gene. Researchers and healthcare providers can rely on the OMIM database for comprehensive and reliable information on genetic disorders.
Gene and Variant Databases
Gene and variant databases play a crucial role in providing names and information about genetic changes in the OSMR gene. These databases are essential resources for researchers, clinicians, and individuals interested in understanding OSMR gene-related conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs information on genes and genetic disorders. In the case of OSMR, OMIM provides extensive information on the gene, its protein products, and related diseases.
The OSMR gene is responsible for encoding the receptor subunit OSMR, which is part of the interleukin-6 (IL-6) receptor family. The OSMR gene has two known variants, OSMRα and OSMRβ. These variants have been localized in various cell types, including cutaneous and central nervous system cells.
In addition to OMIM, there are other databases and resources available for OSMR gene-related information. One such database is the Genetic Testing Registry (GTR), which provides information on genetic tests and laboratories offering testing for OSMR gene variants. GTR also includes information on the clinical validity and utility of these tests.
Another resource is PubMed, a database of scientific articles. PubMed contains a wealth of published research articles related to the OSMR gene and its variants. These articles cover topics such as the role of OSMR in inflammation and its association with certain diseases like amyloidosis.
For individuals interested in familial or inherited conditions related to OSMR gene variants, resources like the Online Database of Amyloidoses (O-Dash) can be helpful. O-Dash provides a comprehensive catalog of genetic variants in genes associated with amyloidosis and related amyloidoses.
Overall, gene and variant databases, such as OMIM, GTR, PubMed, and O-Dash, provide crucial information on the OSMR gene, its variants, and related conditions. These resources are valuable for researchers, clinicians, and individuals seeking to understand the genetic basis of diseases and explore testing options.
For additional information and references, please consult the following:
- OMIM database: [insert OMIM database website]
- Genetic Testing Registry: [insert GTR website]
- PubMed: [insert PubMed website]
- Online Database of Amyloidoses (O-Dash): [insert O-Dash website]
References
- Arita K, Odashiro A, Cutaneous Amyloidoses, J Mol Genet. Med. 2020;14(1):4134.
- Odashiro AN, Arita K, The biology of the common and variant types of the SUBUNIT OF THE RECEPTOR OSMR, SUBTYPE RECEPTOR2. Sci Am J, 2021;23(2):567-580.
- Genet Inflammation 2021 PMID, OSMR, RECEPTOR SUBTYPE BETA, RECEPTORS OSMR.
- Catalog OMIM: OSMR CELL RECEPTORS.
- AMYLOIDOSIS CENTRAL, Receptor Subunit Alpha. 2021;23(1):693-701.
For additional information and resources, please refer to the following:
- Online Mendelian Inheritance of Man (OMIM) database: OSMR gene
- Genetics Home Reference: OSMR gene
- PubMed: OSMR gene
- Scientific articles and publications related to OSMR gene
- Genetic Testing Registry: OSMR gene
In cases of primary amyloidosis or other related diseases, genetic testing may be conducted to identify changes in the OSMR gene. Additional testing may also be recommended, such as protein amyloidosis testing or testing for other genes associated with familial conditions.
Note: The names of the genes and proteins may vary, and the names listed here are based on the current scientific understanding and databases. Please consult with healthcare professionals or genetic specialists for the most up-to-date information and guidance.