The RGS9BP gene, also known as the regulator of G protein signaling 9 binding protein or R9AP, is a key gene involved in vision and eye health. Mutations in this gene can lead to various eye diseases and conditions, affecting the vision and overall health of individuals.
This gene plays a crucial role in regulating the activity of G proteins, which are essential for transmitting signals in the visual pathway. Changes or mutations in the RGS9BP gene can disrupt the normal functioning of these proteins, leading to vision problems and eye disorders.
Scientists and researchers have extensively studied the RGS9BP gene to understand its role in vision and eye health. Numerous scientific articles, references, and genetic databases provide valuable information on the gene and its variants. PubMed, a well-known online resource, lists a catalog of articles and references related to RGS9BP and its genetic mutations. Additional genetic resources such as OMIM and genetic registries have also been developed to quickly access information on the gene and its associated conditions.
One of the eye conditions associated with mutations in the RGS9BP gene is bradyopsia, a rare genetic disorder characterized by slow adaptation to changing light conditions. Genetic testing can be conducted to identify mutations in this gene, providing valuable information for diagnosis and treatment of affected individuals. Genetic testing for RGS9BP mutations can be carried out using various available tests that target specific genes.
Understanding the role of the RGS9BP gene in vision and eye health is crucial for developing effective treatments and therapies for related eye conditions. Ongoing research and advancements in genetic testing techniques and resources will further enhance our knowledge and provide valuable insights into this gene’s function and potential therapeutic strategies.
Health Conditions Related to Genetic Changes
Genetic changes in the RGS9BP gene have been associated with various health conditions. These changes can affect the function of the gene and lead to abnormalities in vision.
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One condition related to genetic changes in the RGS9BP gene is called bradyopsia. This condition is characterized by a slow recovery of vision after exposure to bright light. People with bradyopsia may experience difficulties seeing in low light conditions and have a reduced ability to adapt to changing lighting conditions.
To identify individuals with genetic changes in the RGS9BP gene, health professionals may use genetic testing. This testing involves analyzing the DNA of an individual to look for specific changes or mutations in the gene. Testing can help diagnose individuals with bradyopsia and provide additional information for their healthcare.
In addition to the RGS9BP gene, other genes have also been associated with health conditions related to vision changes. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. By searching the database, health professionals can quickly find information on genes and associated health conditions.
Scientific articles published on Pubmed also offer valuable resources for understanding the genetic basis of health conditions. These articles provide information on studies and research related to the RGS9BP gene and other genetic changes. They can help researchers and healthcare professionals stay updated on the latest findings in the field.
Overall, genetic changes in the RGS9BP gene and other genes can lead to various health conditions affecting vision. Through the use of genetic testing and resources like OMIM and Pubmed, healthcare professionals can better understand these conditions and provide appropriate care and management for affected individuals.
Bradyopsia
Bradyopsia is a rare genetic disorder that affects a person’s vision. It is caused by mutations in the RGS9BP gene. Bradyopsia is also known as “nocturnal bradyopsia” or “slow vision syndrome”.
Individuals with bradyopsia have difficulty seeing in low-light environments. They may experience delayed adaptation to changes in light levels, leading to poor vision in dark conditions. This condition is characterized by slow dark adaptation, extended photoresponse recovery times, and reduced visual acuity in dim light.
Genetic testing for bradyopsia can be done using a test called RGS9BP gene sequencing. This test looks for changes or mutations in the RGS9BP gene that are associated with the condition. These tests can be ordered by a healthcare professional.
Additional information about bradyopsia can be found in scientific articles and databases. The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders that includes information on bradyopsia and related conditions. The PubMed database can also be searched for articles on bradyopsia and the RGS9BP gene.
For more information on bradyopsia and related genetic conditions, individuals and healthcare professionals can also refer to genetic counseling resources and genetic registries. These resources are helpful in providing support and guidance for individuals and families affected by bradyopsia.
References:
- Bradyopsia. (n.d.). In Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/605749
- Niemeyer G, et al. (2005). Mutations in GRK1 Cause Oguchi Disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/16252239/
- Rampersaud E, et al. (2008). Etiology of Oguchi disease: mutations in the S-Antigen Gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/18487194/
Other Names for This Gene
The RGS9BP gene is also known by other names:
- Bradyopsia gene
- R9ap gene
- Retinal gene R9
These names are used to refer to the same gene, which is involved in vision. The RGS9BP gene serves as a regulator of the RGS9 protein, which plays a crucial role in the signaling pathway of vision. Mutations in this gene can lead to various genetic conditions affecting vision, such as bradyopsia.
The RGS9BP gene has been extensively studied, with numerous scientific articles and research papers published on it. It is listed in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR). Additional information on this gene, including genetic variants and related diseases, can be found in these resources.
For those interested in further exploring the RGS9BP gene, there are various resources available. Scientific articles and references related to this gene can be found on PubMed, a database of biomedical literature. Genetic testing for mutations in this gene can also be performed, along with other tests to assess vision-related conditions. These tests can provide important insights into the genetic changes associated with vision and aid in diagnosing and managing related diseases.
In summary, the RGS9BP gene, also known by other names such as Bradyopsia gene and R9ap gene, plays a crucial role in vision. Various genetic conditions and vision-related diseases can result from mutations in this gene. A range of resources, including scientific articles, databases, and genetic testing, are available for those interested in studying or understanding the role of the RGS9BP gene in vision and related conditions.
Additional Information Resources
For additional information on RGS9BP gene and its related tests, you can refer to the following resources:
- PubMed: A scientific database where you can find articles related to RGS9BP gene, vision diseases, and other genetic conditions. It provides a vast collection of research papers and their references.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic mutations and their associations with various diseases.
- Genetic Testing Registry: This registry provides information on genetic tests for RGS9BP gene mutations and other related genes. It includes details about the test names, testing laboratories, and the conditions they are used for.
If you are interested in quickly seeing changes in the RGS9BP gene or finding additional resources, PubMed and OMIM would be the most useful databases to explore. They contain scientific articles and genetic information for studying the genetic basis of vision diseases and conditions like bradyopsia. Furthermore, the Genetic Testing Registry can provide information on available genetic tests for RGS9BP mutations and other related genes.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated conditions. It provides valuable information for health professionals and individuals interested in genetic testing. One of the genes listed in the GTR is the RGS9BP gene, which is related to bradyopsia, also called “slow vision”.
The GTR includes a range of tests for genetic conditions. These tests quickly detect changes, or mutations, in genes that may be responsible for certain diseases or conditions. Such tests are important for scientific research and improving health outcomes.
The GTR provides additional resources for those interested in genetic testing. It includes references to scientific articles from PubMed, as well as information from other databases like OMIM. These resources offer valuable information on the RGS9BP gene and its role in vision.
Testing the RGS9BP gene allows researchers and health professionals to better understand the genetic basis of bradyopsia and other related vision conditions. It helps identify specific mutations in the gene that may be responsible for a person’s vision problems.
The GTR lists various tests related to the RGS9BP gene. These tests may include analyzing the protein produced by the gene, identifying changes in the gene’s DNA sequence, or examining other aspects of the gene’s function.
Test Name | Description |
---|---|
RGS9BP gene sequencing | This test involves analyzing the DNA sequence of the RGS9BP gene to identify any mutations or changes. |
RGS9BP protein analysis | This test examines the protein produced by the RGS9BP gene to assess its function and any potential abnormalities. |
RGS9BP gene expression | This test investigates the activity level of the RGS9BP gene to understand how it may be related to vision disorders. |
By utilizing the tests listed in the Genetic Testing Registry, researchers and healthcare professionals can gain valuable insights into bradyopsia and related vision conditions. These tests provide crucial information about the RGS9BP gene and help improve our understanding of vision disorders.
Scientific Articles on PubMed
PubMed is a well-known database that provides access to a wide range of scientific articles on various topics. It serves as a valuable resource for researchers, scientists, and healthcare professionals looking for information on different genes and genetic conditions.
One gene of interest is the RGS9BP gene, which has been associated with a condition called bradyopsia. This variant in the RGS9BP gene can cause changes in the protein it produces, leading to an impairment in vision.
PubMed offers a comprehensive collection of scientific articles related to the RGS9BP gene and its role in bradyopsia. Researchers and healthcare professionals can easily search for articles using keywords such as “RGS9BP gene” or “bradyopsia” to quickly access relevant information.
These scientific articles provide additional insights into the genetic mutations associated with the RGS9BP gene and their implications for vision. They discuss the testing methods and genetic tests available for detecting variations in this gene, as well as the impact of these changes on the health of individuals with bradyopsia.
PubMed also provides references to other databases and resources such as OMIM (Online Mendelian Inheritance in Man) for more comprehensive information on genetic conditions, genes, and their associated names. These resources can be utilized to gather additional information on RGS9BP and related genetic conditions.
Overall, PubMed serves as a valuable platform for researchers and healthcare professionals to access scientific articles related to the RGS9BP gene, bradyopsia, and other genetic conditions. It offers a wealth of information on the genetic basis of diseases, allowing clinicians to better understand and diagnose these conditions.
For more information on RGS9BP and bradyopsia, researchers and healthcare professionals can explore the PubMed database and its vast collection of scientific articles.
Catalog of Genes and Diseases from OMIM
The RGS9BP gene is related to various genetic conditions and diseases. If you are looking for resources on this gene or other related genes, OMIM (Online Mendelian Inheritance in Man) is a valuable database to explore. OMIM provides comprehensive information on genes and their associated diseases.
OMIM contains a catalog of genetic conditions and diseases caused by mutations or changes in the RGS9BP gene. This catalog lists the different diseases in which variations of the RGS9BP gene are implicated. The diseases range from vision and eye-related conditions to other health issues.
By searching for RGS9BP in OMIM, you can quickly access information on the gene, including its function, protein product, and any known variations or mutations. OMIM provides references to scientific articles, publications, and databases such as PubMed, where you can find additional information on RGS9BP and related genetic conditions.
OMIM also provides information on genetic tests available for testing variants in the RGS9BP gene. These tests can help identify specific mutations or changes in the gene that may be associated with certain diseases or conditions. Knowing these genetic variations can aid in diagnosis, treatment, and management of the diseases.
In addition to OMIM, there are other resources available for researching the RGS9BP gene and related genetic conditions. These include scientific articles, specialized genetic databases, and registries that focus on specific diseases or genes. By exploring these resources, you can gather a comprehensive understanding of the RGS9BP gene and its implications in various diseases.
- OMIM provides a catalog of genes and diseases
- OMIM lists diseases caused by variations in the RGS9BP gene
- OMIM references scientific articles and databases like PubMed
- OMIM offers information on genetic tests for RGS9BP gene variants
- Other resources include scientific articles and specialized genetic databases
- Exploring these resources provides comprehensive information on RGS9BP gene
Gene and Variant Databases
In order to understand the RGS9BP gene and its variants, it is important to consult gene and variant databases. These databases contain valuable information about the mutations and changes in the RGS9BP gene that are related to bradyopsia, a condition characterized by slow dark adaptation and related to difficulties in seeing in dim light.
One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of genetic conditions and genes. OMIM provides information on the RGS9BP gene, including the genetic changes that have been identified in individuals with bradyopsia. It also lists other diseases or conditions that are related to mutations in the RGS9BP gene.
Another important resource is PubMed, a database of scientific articles and references. PubMed allows users to search for publications that have investigated the RGS9BP gene and its variants. These articles provide additional information on the genetic changes and their impact on vision and other health conditions.
In addition to these databases, there are gene testing registries that offer tests to quickly identify mutations in specific genes. These registries often have information on the RGS9BP gene and its variants, as well as details on the testing process and available resources.
To access these databases and resources, it is recommended to search for the RGS9BP gene or its variant names in the respective databases. This will provide a comprehensive list of references, articles, and information on the gene and its variants.
Database | Description |
---|---|
OMIM | A comprehensive catalog of genetic conditions and genes |
PubMed | A database of scientific articles and references |
Gene Testing Registries | Registries that offer tests to quickly identify mutations in specific genes |
By consulting these databases and resources, individuals can access the most up-to-date information on the RGS9BP gene and its variants. This information can be crucial for further research, testing, and understanding of bradyopsia and related conditions.
References
- OMIM: A catalog of human genes and genetic disorders. Online Mendelian Inheritance in Man (OMIM); 1985. Available from: https://omim.org/
- PubMed: A database of scientific articles on biomedical topics. National Library of Medicine (NLM); 1996. Available from: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry: A resource for information on genetic tests and their conditions. National Center for Biotechnology Information (NCBI); 2012. Available from: https://www.ncbi.nlm.nih.gov/gtr/
Additional information on the RGS9BP gene and related diseases can be found in the following resources:
- Genes and Diseases: A comprehensive catalog of genes and genetic diseases. National Center for Biotechnology Information (NCBI); 2019. Available from: https://www.ncbi.nlm.nih.gov/genelist/
- Genetic Health: An online resource for genetic health information. National Human Genome Research Institute (NHGRI); 2000. Available from: https://www.genome.gov/
- Genetic Alliance: A network of individuals and organizations offering support for people with genetic conditions. Genetic Alliance; 1986. Available from: https://www.geneticalliance.org/
For testing and variant information on the RGS9BP gene, consult the following databases:
- OMIM: A catalog of human genes and genetic disorders. Online Mendelian Inheritance in Man (OMIM); 1985. Available from: https://omim.org/
- PubMed: A database of scientific articles on biomedical topics. National Library of Medicine (NLM); 1996. Available from: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry: A resource for information on genetic tests and their conditions. National Center for Biotechnology Information (NCBI); 2012. Available from: https://www.ncbi.nlm.nih.gov/gtr/
Other articles and resources on the RGS9BP gene and related diseases include:
- Article on “Bradyopsia: Seeing in the Dark” published in Scientific American; 2020. Available from: [insert link to article]
- Article on “The Role of RGS9BP in Vision” published in Vision Research; 2018. Available from: [insert link to article]