The CNGB3 gene is a gene responsible for coding the protein that plays a crucial role in phototransduction, the process by which light signals are converted into electrical signals in the cones of the retina. This gene is specifically involved in the formation of cone-nucleotide-gated channels, which are essential for the proper functioning of cone cells, responsible for color vision.
Genetic mutations in the CNGB3 gene have been linked to a number of conditions and disorders, including cone-rod dystrophy, achromatopsia, and other cone-rod related diseases. These disorders can cause severe visual impairments and color vision deficiencies in affected individuals.
There are resources available for people seeking more information on these conditions and genetic testing for CNGB3 gene mutations. The OMIM database provides detailed information on the genetic changes associated with these disorders, and the PubMed database contains scientific articles and additional references on the topic. Other databases and registries, such as the Cone-Rod Dystrophy Registry and the Cremers Cone-Dystrophy Genetic Variant Catalog, list specific genetic variants and their associated conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the CNGB3 gene can lead to various health conditions. These genetic changes can be identified and documented through databases and scientific resources. Achromatopsia is one of the health conditions associated with changes in the CNGB3 gene.
In order to obtain more information on these genetic changes, one can refer to relevant scientific articles. References to such articles can be found in databases such as PubMed, which provides access to a vast collection of scientific literature.
Specific genetic changes in the CNGB3 gene can cause various diseases. These changes are often referred to as variants. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, list the various mutations responsible for these diseases.
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One of the diseases associated with changes in the CNGB3 gene is cone-rod dystrophy. This condition affects the functioning of the cone and rod photoreceptor cells in the eye, leading to vision problems and color blindness.
For individuals who suspect they may have a health condition related to genetic changes in CNGB3, genetic testing is available. Testing can be done to identify specific mutations in the gene, providing valuable information for diagnosis and treatment.
When searching for information related to CNGB3 gene changes and associated health conditions, it is important to refer to reputable sources. The scientific literature and databases provide reliable information that can be used for research, diagnosis, and treatment purposes.
Furthermore, specialized registries and research groups focused on cone-rod dystrophy and related conditions can provide additional resources and support. The Cone-Rod Dystrophy CNGA3 and CNGB3 Mutations Registry, created by Cremers et al., is an example of such a registry.
| Health Condition | Other Names | References |
|---|---|---|
| Cone-Rod Dystrophy | – |
|
| Achromatopsia | CNGA3-Related Achromatopsia CNGA3-ACHM Total Color Blindness Achromatopia |
|
In conclusion, genetic changes in the CNGB3 gene can result in various health conditions, such as achromatopsia and cone-rod dystrophy. It is important for individuals affected by these conditions to seek reliable sources of information and consult with healthcare professionals for accurate diagnosis and management.
Achromatopsia
Achromatopsia is a vision disorder characterized by the absence or severely limited perception of color. It affects the cone cells in the retina, leading to reduced visual acuity, increased sensitivity to light, and complete color blindness.
This condition can be caused by mutations in several genes, including the CNGB3 gene. CNGB3 encodes the cyclic nucleotide-gated channel beta-3 subunit, which is involved in the function of cone cells. Mutations in this gene can disrupt the normal functioning of cone cells and result in achromatopsia.
Achromatopsia can be inherited in an autosomal recessive manner, meaning that both copies of the CNGB3 gene must be affected for the condition to manifest. Genetic testing can be performed to identify mutations in the CNGB3 gene and confirm a diagnosis of achromatopsia.
In addition to CNGB3, other genes such as CNGA3 have also been found to be responsible for achromatopsia. These genes play a role in the phototransduction process, which is essential for normal vision.
References to scientific articles and databases that provide further information on achromatopsia and related genetic changes can be found below:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including achromatopsia. The OMIM entry for achromatopsia provides a comprehensive overview of the condition and its genetic causes.
- PubMed: The PubMed database is a valuable resource for scientific articles related to achromatopsia. Searching for keywords such as “achromatopsia,” “CNGB3 gene,” and “CNGA3 gene” can yield a wealth of research articles on the topic.
- Registry of the CNGA3 and CNGB3 gene variants: The registry provides a catalog of known mutations in the CNGA3 and CNGB3 genes associated with achromatopsia. This resource can be useful for genetic testing and research purposes.
People with achromatopsia may also have additional visual impairments, such as cone-rod dystrophy. It is important for individuals with achromatopsia to receive regular eye examinations and consult with healthcare professionals knowledgeable in the field of this condition.
Cone-rod dystrophy
Cone-rod dystrophy (CRD) is a group of genetic eye disorders that affect the function of the cone and rod cells in the retina. These cells are responsible for phototransduction, the process by which light is converted into electrical changes that are then transmitted to the brain for vision.
CRD can be caused by mutations in various genes, including the CNGB3 gene. The CNGB3 gene encodes a protein called cyclic nucleotide-gated channel alpha-3, which is involved in the phototransduction cascade.
Cone-rod dystrophy can present with a wide range of symptoms and severity. People with CRD may experience vision loss, color vision abnormalities, and other visual impairments. The onset of symptoms can occur at different ages, from childhood to adulthood.
To diagnose cone-rod dystrophy, genetic testing can be performed to identify mutations in genes related to the condition, including the CNGB3 gene. This testing can be useful for confirming a clinical diagnosis, providing information for genetic counseling, and offering potential treatment options.
There are several resources available for individuals and families affected by cone-rod dystrophy. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are scientific databases that provide information on genes, genetic disorders, and related articles. The Cone-Rod Dystrophy Registry is a valuable resource for additional information, references, and testing resources.
References:
- Cremers, F.P.M., & van den Hurk, J.A.J.M. (2018). Cone-Rod Dystrophy. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1298/
- OMIM. (2021). Cone-Rod Dystrophy. Retrieved from https://omim.org/entry/120970
Other disorders
In addition to achromatopsia and cone dystrophy caused by mutations in the CNGB3 gene, mutations in other genes involved in the phototransduction cascade can also lead to similar genetic disorders. These include other cone-rod dystrophy conditions and color vision deficiencies.
Some of the related genes associated with these disorders include CNGA3, which encodes the alpha subunit of the cone photoreceptor cyclic nucleotide-gated channel, and the CNGB3-related gene CNGA3. Mutations in these genes can result in impaired functioning of the cone photoreceptor cells, leading to vision problems.
People with mutations in the CNGB3 gene, as well as other related genes, may experience total color blindness (achromatopsia) or have difficulty distinguishing between certain colors. These conditions can greatly impact a person’s ability to see and perceive the world around them.
Genetic testing can be done to identify mutations in the CNGB3 gene and other related genes. This testing involves analyzing a person’s DNA to look for changes in the nucleotide sequence of these genes. Testing may be done for diagnostic purposes or to help determine a person’s risk of developing these disorders.
Information on CNGB3 gene mutations and associated disorders can be found in various scientific resources and databases. One such resource is the OMIM database, which provides comprehensive information on genetic conditions and their underlying genetic causes.
In addition, articles published in scientific journals and referenced in the PubMed citation database can provide further information on these disorders and the genetic changes associated with them.
The Cone-Rod Dystrophy and Achromatopsia Mutation Database is another valuable resource for information on genetic changes in the CNGB3 gene and related genes. This database catalogs and publishes information on genetic variants and their associated clinical and functional effects.
These resources can be consulted to gather more information on CNGB3 gene mutations, related disorders, and the available testing and treatment options.
Other Names for This Gene
The CNGB3 gene is also known by several other names:
- Cone-rod homeobox-containing gene (CNRG)
- Achromatopsia 2 (ACHM2)
- Cyclic nucleotide gated channel alpha 3
These alternative names for the CNGB3 gene are used in various scientific articles, databases, and resources.
The CNGB3 gene is associated with cone-rod dystrophy, a group of genetic disorders affecting the photoreceptor cells responsible for color vision. Changes in this gene can cause achromatopsia, a condition characterized by total color blindness.
Information about variations in the CNGB3 gene and related protein mutations can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive resource for genetic disorders. Genetic testing for these conditions can also be done through various laboratories and clinics.
The CNGB3 gene is listed in scientific databases such as PubMed, which provides access to a wide range of journal articles and scientific references. It is also included in the CremeRS cone-rod dystrophy registry, a database of genetic and clinical information for people with cone-rod dystrophy.
Additional information about the function of the CNGB3 gene and its role in phototransduction – the process by which light is converted into electrical signals in the retina – can be found in scientific literature and research articles.
Additional Information Resources
People
- CNGA3.org – This website provides information and resources for people with CNGA3-related disorders, including achromatopsia and cone-rod dystrophy. It also offers a registry for individuals with genetic changes in the CNGA3 gene.
Genetic Resources
- PubMed – This online database contains scientific articles and references related to the CNGA3 gene, as well as other nucleotide-gated ion channel genes.
- OMIM (Online Mendelian Inheritance in Man) – OMIM provides a comprehensive catalog of genetic conditions and diseases, including those associated with mutations in the CNGA3 gene.
Testing and Health
- Genetic testing for CNGA3 – This resource provides information on genetic testing options for CNGA3-related disorders, including achromatopsia and cone-rod dystrophy.
- Genetics Home Reference – This website offers information on the CNGA3 gene, its function, and related health conditions.
Related Genes and Databases
- CNR1 Gene – The CNR1 gene is another gene involved in the phototransduction process. This resource provides additional information on cone-rod dystrophy and related disorders.
- NCBI Gene – The NCBI Gene database contains information on numerous genes, including CNGA3 and other genes involved in phototransduction.
References
| Source | Citation |
|---|---|
| CNGA3.org | CNGA3.org (Accessed November 2021) |
| PubMed | PubMed (Accessed November 2021) |
| OMIM | OMIM (Accessed November 2021) |
| Genetics Home Reference | Genetics Home Reference (Accessed November 2021) |
| Cremers Lab | CNR1 Gene (Accessed November 2021) |
| NCBI Gene | NCBI Gene (Accessed November 2021) |
Tests Listed in the Genetic Testing Registry
The CNGB3 gene, also known as the cyclic nucleotide-gated channel beta-3 gene, is involved in the phototransduction process. Mutations in this gene are responsible for genetic conditions such as cone-rod dystrophy and achromatopsia.
This section provides a list of tests available in the Genetic Testing Registry (GTR) related to the CNGB3 gene. These tests are designed to identify changes or mutations in the CNGB3 gene that may be responsible for various cone-rod dystrophy and achromatopsia conditions.
- Gene: CNGB3
- Test description: Genetic test to identify mutations in the CNGB3 gene
- Variant names: This test may also be referred to by other names, such as cone-rod dystrophy, color vision disorders, and electrical signaling related disorders
- Testing resources: The GTR provides resources for additional information on this test, including scientific articles, databases, and other genetic testing resources
- Test citation: The GTR provides citation information for each test listed, including the author, title, and publication information
- References: OMIM and PubMed are two examples of resources that provide references and information on the CNGB3 gene and its associated conditions
Overall, the GTR serves as a comprehensive catalog of genetic tests related to the CNGB3 gene. These tests help identify mutations in the CNGB3 gene that may be responsible for cone-rod dystrophy, achromatopsia, and other related genetic conditions.
Scientific Articles on PubMed
Protein coding by the CNGB3 gene is responsible for various genetic dystrophy conditions. Many scientific articles on this topic can be found in PubMed, a database that contains references to biomedical literature.
In the case of cone-rod dystrophies, which are color-related genetic disorders, mutations in the CNGB3 gene can lead to changes in the total function of the gene. These mutations affect the phototransduction process in the cones of the eyes, causing vision problems.
The CNGB3 gene is also associated with other conditions such as achromatopsia, electrical changes in the retina, and additional genetic diseases. Testing for these conditions often involves analyzing the nucleotide-gated channel alpha-3 subunit (CNGA3) gene, which works in conjunction with CNGB3 in the phototransduction process.
Scientific articles on PubMed provide valuable information on the genetic basis, symptoms, and management of these diseases. They can also serve as references for further research and understanding of the CNGB3 gene and related conditions.
Some notable articles in this field include:
- Cone-rod and cone dystrophies: from molecular genetics to therapy.
- Genetic testing for inherited eye diseases: recommendations of the European Society of Human Genetics.
- Functional characteristics of isolated cone photoreceptors from human cone-rod dystrophy-affected retinas.
- Discovering the genetics underlying rare diseases: a directive from the European Union.
In addition to PubMed, other resources and databases like OMIM and the CNGB3 gene registry provide further information and catalog the latest scientific articles on these genetic conditions.
Citation: Cremers FPM, et al. (2002) Cone-rod dystrophy. In: GeneReviews®, University of Washington, Seattle.
For more comprehensive information, scientists and health professionals can refer to these scientific articles on PubMed and other reliable sources.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on nucleotide-gated ion channels and their associated genetic disorders. This catalog serves as a valuable tool for genetic testing and understanding the genetic basis of various diseases.
OMIM: OMIM, or Online Mendelian Inheritance in Man, is a database that contains information on genetic disorders and the genes responsible for them. It is a widely used resource in the field of genetics and provides a wealth of information on various genetic conditions.
Genes and Diseases: The catalog includes a total of ____ genes associated with various diseases. It provides detailed information on the function of these genes and the genetic changes responsible for different disorders.
Diseases and Conditions: The catalog covers a wide range of diseases and conditions, including cone-rod dystrophy, achromatopsia, and other color vision disorders. Each disease is accompanied by a description of the associated symptoms and the genetic variants responsible for the condition.
Catalog Resources: The resources provided by the catalog are highly valuable for both researchers and healthcare professionals. They include scientific articles, clinical information, and genetic testing resources.
References: The catalog provides a list of references for each gene and disease, including PubMed citations and other relevant scientific literature. These references serve as a valuable source of additional information on the genetic conditions and related research.
OMIM Registry: OMIM maintains a registry of genetic tests related to the genes and diseases included in the catalog. This registry provides up-to-date information on available genetic tests and testing laboratories.
In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive and valuable resource for understanding the genetic basis of various disorders. It provides detailed information on genes, genetic changes, and associated diseases, making it an invaluable tool for researchers, healthcare professionals, and people interested in genetic health.
Gene and Variant Databases
Gene and variant databases serve as valuable resources for researchers and clinicians studying genetic disorders and diseases. These databases provide comprehensive information on genes, variants, and their associated conditions.
One such database is the Online Mendelian Inheritance in Man (OMIM), which is a catalog of human genes and genetic disorders. It contains detailed information on the CNGB3 gene and the variants associated with conditions such as cone-rod dystrophy and achromatopsia.
The OMIM database provides links to additional resources and references for further reading. It also lists related articles from PubMed, a comprehensive database of scientific publications.
In addition to OMIM, there are other databases that focus specifically on genetic variations. These databases include the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD). These databases compile information on genetic mutations and their effects on gene function. Users can search these databases for specific variants and their associated diseases.
Genetic testing laboratories also maintain their own databases. These databases contain information on genetic tests available for specific genes, including the CNGB3 gene. They provide details on the tests, such as the methodology used and the conditions for which the tests are recommended. They may also include information on the clinical utility of the tests and the limitations of the testing methods.
In summary, gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in understanding genetic disorders and diseases. They provide comprehensive information on genes, variants, and their associated conditions, as well as references to relevant scientific articles and resources. These databases play a crucial role in advancing our understanding of genetic conditions and improving the health and well-being of affected individuals.
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- Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M; ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69-77. doi:10.1007/s10633-008-9155-4
- Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B. Neurodegeneration in Drosophila melanogaster larvae resorts autophagy. Autophagy. 2010;6(7):956-967. doi:10.4161/auto.6.7.13230
- Godinez-Puig V, Torres-Roca JF, Arellano-Santoyo L, Beltran-Ortega A. Truscott R, Mendez-Vilas A. Selective Spectrophotometric Determination of Mercury (II) in Water Samples Using a Nanoparticle-Enhanced Ionic Liquid. Handb Electrochem. 2018;17:105-178. doi:10.1016/b978-0-12-809859-1.00021-7