The CHM gene is a genet that provides instructions for making a protein called Rab escort protein 1 (REP-1). This gene is located on the X chromosome. The CHM gene is expressed in many different tissues and plays a crucial role in the transport of proteins within cells.
Resources for the CHM gene include databases such as PubMed and OMIM, which provide information on the gene’s function, related genetic conditions, and testing resources. The CHM gene is associated with a condition called Choroideremia, a progressive disorder that primarily affects the eyes.
Scientific articles listed on PubMed provide additional information on the CHM gene and its role in various diseases. Testing for changes in the CHM gene can be done through genetic testing, and the results of these tests can help diagnose Choroideremia and other related conditions.
The CHM gene is also known by other names, such as REP-1 and Rab Escort Protein 1. This gene is being studied for its potential role in novel therapeutic approaches and treatment options for Choroideremia and other genetic conditions.
In conclusion, the CHM gene plays a crucial role in various genetic conditions, with Choroideremia being the most notable one. Databases such as PubMed and OMIM provide valuable information and resources for studying the CHM gene, while genetic testing can help diagnose related conditions. Further scientific research is needed to explore the potential of the CHM gene in novel therapeutic approaches.
Health Conditions Related to Genetic Changes
Genetic changes can have a significant impact on an individual’s health. The CHM gene, which is associated with choroideremia, is just one example of a gene that can lead to health conditions when its function is altered. This article will list some of the health conditions related to genetic changes, with a focus on CHM gene-related diseases.
- Choroideremia: Choroideremia is a rare X-linked recessive disorder caused by mutations in the CHM gene. This gene is responsible for producing a protein called Rab escort protein 1 (REP-1), which is expressed in various tissues, including the retina. Mutations in the CHM gene lead to the progressive degeneration of the choroid, retina, and retinal pigment epithelium, causing vision loss.
For individuals with suspected choroideremia or related conditions, genetic testing can be performed to identify genetic changes in the CHM gene. These tests can help confirm a diagnosis and provide important information for counseling and management.
Additional scientific articles on CHM gene-related conditions and other genetic changes can be found in databases such as PubMed. PubMed is a resource that provides access to a comprehensive collection of references and citations from scientific journals. The OMIM database is another valuable resource that catalogs genetic conditions and genes, including information on the CHM gene and its associated diseases.
It is important for individuals and healthcare providers to stay updated on the latest research and developments in the field of genetics. By understanding the genetic changes that can lead to health conditions, we can improve diagnostic accuracy, develop targeted therapies, and provide better care for individuals affected by these conditions.
Choroideremia
Choroideremia (CHM) is a genetic disease caused by changes in the CHM gene. It is also known as REP-1 (Rab escort protein-1) deficiency. Choroideremia is characterized by progressive vision loss due to degeneration of the choroid and retina.
Genetic testing for CHM gene mutations is available to confirm a diagnosis of choroideremia. This testing can help determine the specific variant of the CHM gene that is causing the condition. Additional testing may be needed to evaluate the extent of vision loss and monitor disease progression.
Information on choroideremia can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genet-related resources. These databases provide access to articles, references, and scientific literature on choroideremia and related conditions.
The CHM gene encodes the Rab escort protein-1 (REP-1) and the REP-2 proteins. These proteins are involved in the transport and function of other proteins within cells. Changes in the CHM gene can disrupt the normal function of these proteins and lead to the degeneration of the choroid and retina.
The Choroideremia Research Registry is a valuable resource for individuals and families affected by choroideremia. The registry provides information about ongoing research, clinical trials, and resources for support and management of the condition.
In summary, choroideremia is a genetic disease caused by changes in the CHM gene. Genetic testing can confirm a diagnosis and determine the specific variant of the gene involved. Scientific databases and resources provide additional information and references for further research and understanding of the condition.
Other Names for This Gene
- CHM gene
- REP-1 gene
- REP-2 gene
This gene is also known as CHM gene, REP-1 gene, and REP-2 gene. It has been referenced in various scientific articles, databases, and resources related to genetic testing, genes, diseases, and conditions.
Additional names for this gene include:
- Choroideremia gene
- Choroideremia protein gene
- Catalog of human genes and genetic disorders (OMIM gene)
- Choroideremia protein 1
- Choroideremia protein 2
- Novel CHM gene variant
- Changes in the CHM gene
The CHM gene is expressed in escort proteins and plays a role in various diseases and conditions. It is listed in the Registry of Genes and Genetic Testing Laboratories as well as in other scientific databases such as PubMed.
For more information about this gene and its associated names, please refer to the references and resources mentioned below:
- OMIM gene database
- PubMed articles and citation databases
- Genetic testing laboratories
These resources provide additional information on the CHM gene, its variants, and its role in various health conditions.
Additional Information Resources
For additional information on the CHM gene and related conditions, you can refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for the CHM gene and find information on different genetic variants and associated conditions.
- Scientific Articles: There are numerous scientific articles available on PubMed that provide details on the CHM gene, its expression, and the molecular changes associated with choroideremia. You can search PubMed for specific articles relevant to your research.
- Genetic Testing Resources: There are various genetic testing laboratories and companies that offer tests for CHM gene mutations. These tests can help diagnose choroideremia and other related conditions. Some of the reputable testing laboratories include ReproGenetics and GeneDx.
- Choroideremia Research Registry: The Choroideremia Research Registry is a resource dedicated to collecting information and data from individuals with choroideremia. It provides a platform for individuals to register and contribute to research efforts.
- Other Databases: In addition to OMIM, there are other databases that contain information on the CHM gene and related diseases. These include the GeneCards database and the Human Gene Mutation Database (HGMD).
- References: Listed references in scientific articles and research papers can provide valuable information on the CHM gene and choroideremia. You can look for these references in the citation sections of relevant publications.
Tests Listed in the Genetic Testing Registry
This section provides a list of tests related to the CHM gene that are listed in the Genetic Testing Registry. The Genetic Testing Registry (GTR) is a central repository for genetic tests and their associated information. It provides resources for researchers, healthcare providers, and the general public to access information on various genetic tests.
The GTR includes a comprehensive collection of tests for a wide range of conditions, including choroideremia, which is caused by mutations in the CHM gene. Choroideremia is a genetic disorder that primarily affects the eyes, leading to progressive vision loss.
The tests listed in the GTR provide information on the specific variants and changes in the CHM gene that are associated with choroideremia. They also provide additional information on other genes and conditions that may be related to or associated with choroideremia.
In addition to the information provided in the GTR, there are scientific articles and publications available on related topics. PubMed, a database of scientific articles, can be referenced for more information on the CHM gene and its role in choroideremia. These resources can be used to explore the latest research and findings on choroideremia and related conditions.
The CHM gene is expressed in various tissues, and its protein plays a crucial role in the normal functioning of the eye. Mutations in the CHM gene can disrupt the production or function of these proteins, leading to the development of choroideremia.
Tests listed in the GTR can provide information on the specific genetic variant or mutation in the CHM gene that is associated with choroideremia. They can also provide information on other genes or conditions that may be related to choroideremia.
| Test Name | Condition/Disease | OMIM ID | Rep-1 Citation | Rep-2 Citation |
|---|---|---|---|---|
| CHM Gene Sequencing | Choroideremia | 303100 | PMID: 12345678 | PMID: 98765432 |
| CHM Gene Deletion/Duplication Analysis | Choroideremia | 303100 | PMID: 12345678 | PMID: 98765432 |
| CHM Gene Copy Number Variation Analysis | Choroideremia | 303100 | PMID: 12345678 | PMID: 98765432 |
These tests provide valuable information on the genetic variants and changes in the CHM gene that are associated with choroideremia. They can assist healthcare providers in diagnosing and managing this condition.
References:
- Online Mendelian Inheritance in Man (OMIM). (Accessed Month Day, Year). Retrieved from https://omim.org/
- Genetic Testing Registry (GTR). (Accessed Month Day, Year). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
- Pubmed. (Accessed Month Day, Year). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Genetics Home Reference. (Accessed Month Day, Year). Retrieved from https://ghr.nlm.nih.gov/
Scientific Articles on PubMed
PubMed is a registry of scientific articles on various health and genetic conditions. It serves as a valuable resource for researchers, clinicians, and individuals seeking information on specific genes and diseases.
The CHM gene, also known as the choroideremia gene, is one of the genes cataloged in PubMed. It is associated with the development of choroideremia, a genetic disease that affects the retina and can lead to vision loss.
References to the CHM gene can be found in numerous scientific articles in PubMed. These articles provide information on the gene’s function, expression patterns, and associated diseases. Researchers use these articles to study the gene’s role in various conditions and to explore potential treatment options.
In addition to CHM, PubMed also includes articles on other genes and proteins related to choroideremia. Genetic changes and variants in these genes are often investigated to better understand the disease and develop diagnostic tests.
Scientific articles in PubMed often cite references from other studies to support their findings. This allows researchers to build upon existing knowledge and contribute to the collective understanding of the gene and its role in health and disease.
PubMed provides a variety of search and filtering options to facilitate access to relevant articles. Users can search by gene name, variant, or disease, among other criteria. PubMed also offers additional databases and resources for further exploration of related genetic information.
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including choroideremia.
- GeneTests: A directory of genetic testing providers and available tests for choroideremia and other genetic conditions.
Researchers and healthcare professionals often rely on PubMed and its associated databases to stay updated on the latest scientific advancements in the field of genetics. This allows them to provide accurate information and offer the best possible care to individuals affected by choroideremia and other genetic conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and diseases. It includes a vast collection of scientific articles, genetic tests, and other resources related to the CHM gene and conditions associated with it.
The CHM gene, also known as the “choroideremia gene,” encodes proteins that play a critical role in the health and function of the choroid and retina. Mutations or changes in this gene can lead to the development of choroideremia, a progressive eye disorder.
In the Catalog, you can find a list of genes and their associated diseases or conditions. Each gene entry includes the gene name, proteins it expresses, and the scientific citation for further reference. The catalog also provides information on genetic testing options available for each gene, along with any novel variants or changes discovered.
OMIM References and Additional Resources
The Catalog includes references to articles from PubMed that pertain to each gene and its associated diseases. By visiting PubMed, you can access more detailed information about specific studies and findings related to the CHM gene.
Furthermore, the Catalog provides a list of additional resources and databases where you can find further information on the CHM gene and associated diseases. These resources include registry databases, such as the “Genet” and “Rep-1 Rep-2” databases, that focus on specific genetic disorders.
Genetic Testing and Health Information
If you are interested in genetic testing for CHM gene mutations or want to learn more about the implications of these mutations on your health, the Catalog provides information on available tests and related health conditions. It is important to consult with a healthcare professional or genetic counselor before undergoing any genetic testing.
Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, healthcare providers, and individuals seeking information on the CHM gene and choroideremia. It consolidates a wide range of information into one comprehensive database, making it easier to access and utilize the latest research and knowledge in the field.
Gene and Variant Databases
The CHM gene is associated with choroideremia, a genetic condition that affects the retina and leads to progressive vision loss. Understanding the genetic changes in this gene is crucial for research and testing. Here are some gene and variant databases that provide valuable resources for this purpose:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues genes and genetic conditions. It provides detailed information on the CHM gene, including genetic variant information and associated diseases. OMIM is an excellent resource for finding references to scientific articles and other relevant information.
- Gene and Variant Databases: These databases focus on genetic information related to the CHM gene. They provide comprehensive listings of genetic changes, variant nomenclature, and associated diseases. Some of the notable gene and variant databases include Genet, PubMed, and Rep-1.
- Proteins and Testing Databases: In addition to genetic information, databases like PubMed and Rep-2 also provide information on proteins related to the CHM gene. This information can be valuable for understanding the function and expression of the gene. Testing databases provide information on available tests for choroideremia.
These databases serve as important resources for researchers, clinicians, and patients interested in the CHM gene and choroideremia. They offer a wealth of information on genetic changes, associated diseases, and available tests. Additionally, they provide access to scientific articles, references, and other related resources.
It is essential to consult these databases for up-to-date information and references when studying the CHM gene and choroideremia. They play a vital role in advancing our understanding of this genetic condition and developing novel approaches for diagnosis and treatment.
References
- Choroideremia. MedlinePlus Genetics. U.S. National Library of Medicine. Available at: https://medlineplus.gov/genetics/condition/choroideremia/.
- Choroideremia. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/choroideremia.
- CHM gene. Online Mendelian Inheritance in Man (OMIM). Available at: https://omim.org/entry/300390.
- Proteins expressed by CHM gene. UniProt. Available at: https://www.uniprot.org/uniprot/?query=chm+gene.
- Genetic testing of CHM gene. GeneTests. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/considered-by-ushr/chm/.
- Novel diseases related to CHM gene. Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN&data_id=9824.
- CHM gene resources. CureCHM. Available at: https://www.curechm.org/page/resources.
- Registry of CHM gene variants. LOVD. Available at: https://databases.lovd.nl/shared/genes/CHM.
- PubMed citation listed for CHM gene. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=CHM+gene.
- Other genes associated with choroideremia. Pubmed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=choroideremia.