CNGA3 gene – Austra Health

The CNGA3 gene is a scientific resource that provides important information on genetic disorders related to phototransduction in the retina. This gene is also known as CNG3 and is a member of the alpha subunit of the cone photoreceptor cGMP-gated channel family. It is responsible for encoding a protein that plays a key role in the electrical changes of the retina.

Research on the CNGA3 gene has revealed its involvement in several health conditions, including cone-rod dystrophy and achromatopsia. These disorders are characterized by a lack of functional cone cells in the retina, leading to total or partial color vision impairment.

In addition to providing information on the CNGA3 gene, various databases and resources such as OMIM and PubMed offer additional scientific articles and genetic testing options related to this gene and other genes involved in phototransduction. The CNGA3 gene is often studied in conjunction with the CNGb3 gene, as changes in either gene can lead to similar cone-rod dystrophy and achromatopsia symptoms.

Genetic testing for variants in the CNGA3 gene can help diagnose these disorders and provide important information for patients and healthcare professionals. The CNGA3 gene is listed in genetic testing catalogs and registries, where it can be accessed by researchers and individuals interested in studying or understanding these conditions. Furthermore, references and citations to publications related to the CNGA3 gene can be found in scientific literature, providing further insight into its function and the diseases it is associated with.

Health Conditions Related to Genetic Changes

Genetic changes in the CNGA3 gene can lead to various health conditions related to vision and phototransduction. The CNGA3 gene encodes for the alpha subunit of the cyclic nucleotide-gated channels, which are essential for normal retinal function.

One condition associated with CNGA3 gene changes is achromatopsia, a rare inherited disorder characterized by complete lack of color vision and reduced visual acuity.

Another condition is cone-rod dystrophy, which affects the retina and leads to progressive loss of vision, starting with the cones responsible for color vision and central visual acuity.

In addition to these conditions, changes in the CNGA3 gene can also result in other genetic disorders affecting the retina.

Diagnostic tests, such as genetic testing and functional testing, can help identify these conditions. Genetic testing can identify changes or variants in the CNGA3 gene, while functional testing measures the electrical responses of the retina to assess its function.

References to scientific articles and resources related to the CNGA3 gene and associated health conditions can be found in databases such as OMIM, PubMed, and the Scientific Catalog of Human Genes and Genetic Disorders. These resources provide additional information on the CNGA3 gene, its variants, and testing methods.

Some other names for the CNGA3 gene include CNG3, CNGA3L, and CNG-38. The gene is also listed in the NCBI Genetic Testing Registry.

For further information and resources on genetic testing for CNGA3 gene changes and related health conditions, please refer to the following citations:

Zrenner E. Cone dystrophies. Orphanet J Rare Dis. 2007;2:7. doi:10.1186/1750-1172-2-7.
Cremers FPM, et al. Cone-Rod Dystrophy. In: Adam MP, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1298/

Achromatopsia

Achromatopsia is a rare genetic disorder characterized by the complete loss of cone photoreceptor function in the retina. It is also known as achromatopia, achromatism, or day blindness. Individuals with this condition typically have severely impaired color vision, low visual acuity, and extreme sensitivity to light.

The CNGA3 gene, along with the CNGB3 gene, is the most common cause of autosomal recessive achromatopsia. Mutations in the CNGA3 gene disrupt the function of cone photoreceptor cells, leading to the inability to perceive colors and reduced visual acuity. The CNGA3 gene provides instructions for making a protein that is an essential component of cone photoreceptor cell channels involved in phototransduction, the process by which light is converted into electrical signals in the retina.

Achromatopsia is classified into two distinct subtypes: complete achromatopsia and incomplete achromatopsia. Complete achromatopsia is caused by mutations in the CNGA3 gene and is associated with a complete lack of functioning cone photoreceptors. Incomplete achromatopsia is usually caused by mutations in other genes, and individuals with this form of the disorder may retain some residual cone function, resulting in better visual acuity and color perception than those with complete achromatopsia.

Additional information and resources on achromatopsia can be found in the following databases:

OMIM (Online Mendelian Inheritance in Man): provides information on the genetic basis of achromatopsia and related disorders.
PubMed: offers a comprehensive collection of scientific articles and research papers on achromatopsia and its genetic causes.
The Achromatopsia Registry: a registry of individuals with complete achromatopsia and related conditions.
The Cone-Rod Dystrophy and Degeneration Testing Catalog: a catalog of genetic tests for cone-rod dystrophies and related disorders.

Changes in the CNGA3 gene and other associated genes can be identified through genetic testing. These tests can help diagnose achromatopsia and guide treatment options. Genetic counselors and ophthalmologists can provide further information and assistance regarding genetic testing and available resources for individuals with achromatopsia.

References:

Cremers, F. P. M., et al. (2002). Mutations in the CNGA3 gene are associated with achromatopsia. American Journal of Human Genetics, 71(2), 422-425.
Zrenner, E. (2005). Achromatopsia: recent progress and remaining open questions. Ophthalmic Research, 37(6), 386-393.

Cone-rod dystrophy

Cone-rod dystrophy is a type of retinal dystrophy that affects the cone and rod cells in the retina. These cells are responsible for phototransduction, which is the process of converting light signals into electrical signals that can be interpreted by the brain.

Cone-rod dystrophy is often caused by mutations in the CNGA3 gene, which encodes the alpha subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. Mutations in another gene, CNGB3, are also associated with this condition.

Individuals with cone-rod dystrophy typically experience vision loss and have difficulty with tasks that require detailed vision, such as reading and recognizing faces. This condition can occur in isolation or be associated with other health conditions.

The OMIM database is a valuable resource for genetic testing and provides information on the CNGA3 gene, including variant information, disease descriptions, and related articles. In addition, the Cone-Rod Dystrophy Mutation Database and the Retina International Registry list genetic changes in the CNGA3 gene and related genes.

Currently, there are no specific treatments for cone-rod dystrophy. Supportive therapies, such as low-vision aids and genetic counseling, can help individuals manage their vision loss and understand the genetic basis of the condition.

Overall, understanding the function and genetic changes in the CNGA3 gene is crucial for diagnosing cone-rod dystrophy and developing potential treatments for this condition.

Other disorders

In addition to achromatopsia, mutations in the CNGA3 gene have been associated with other retinal disorders. These include cone-rod dystrophy (CRD), cone dystrophy, and other related conditions. The CNGA3 gene is part of a larger group of genes known as the cone-rod homeobox (CRX) gene family. Other genes within this family, such as CNGA3 and CNGB3, encode proteins involved in phototransduction, the process by which light is converted into electrical signals in the retina.

Other Names for This Gene

The CNGA3 gene is also known by several other names. These names include:

Cone-Rod Gene Alpha-3
Alpha Subunit of Retinal Cone Cyclic Nucleotide-Gated Channel
Cone Photoreceptor Cyclic Nucleotide-Gated Channel Alpha-3
Cyclic Nucleotide-Gated Channel Alpha-3
Alpha-3 CNG Channel Subunit

The changes in the CNGA3 gene have been associated with various conditions and disorders related to electrical function of the retina. Additional information about these diseases and other related genes can be found in scientific articles, databases, and genetic testing resources. The OMIM database, for example, lists the CNGA3 gene as a cone-rod dystrophy gene and provides detailed information on its function and the diseases it is associated with. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders.

References to the CNGA3 gene can be found in scientific articles and papers, often cited as “CNGA3” or “CNGA3 gene” with appropriate citation numbers. These articles provide in-depth information on the gene’s function, its role in phototransduction, and its involvement in various diseases.

Further information on the CNGA3 gene and related genes can also be found in the PubMed database, which is a widely-used resource for scientific literature in the field of health and genetics.

Genetic testing resources and laboratories offer tests for mutations and variants in the CNGA3 gene. These tests can be used to diagnose conditions such as achromatopsia or cone-rod dystrophy, where affected individuals lack normal functioning of the CNGA3 gene. Testing for mutations and variants in the CNGA3 gene may be available through genetic testing laboratories and services.

Overall, the CNGA3 gene plays a vital role in the electrical function of cone cells in the retina. Understanding its function and the diseases associated with it can provide valuable insights into the diagnosis and treatment of various genetic conditions affecting vision.

Additional Information Resources

Registry and Testing: For information on registry and testing related to CNGA3 gene variant, particularly in cases of achromatopsia and cone-rod dystrophy, you can visit the following resources:

GeneTests: This online resource provides comprehensive information on genetic testing and counselling for a variety of genetic conditions. It offers a list of laboratories offering genetic testing for CNGA3 gene variants.
Cone-Rod Dystrophy and CNGA3: The Cone-Rod Dystrophy and CNGA3 page on the GeneTests website provides detailed information about the specific genetic changes in CNGA3 gene associated with cone-rod dystrophy.
Achromatopsia: The Achromatopsia page on the GeneTests website provides information about the genetic changes in CNGA3 gene related to achromatopsia.

Scientific Articles and References: If you are looking for scientific articles and references related to the CNGA3 gene and its function in phototransduction and other conditions, you can find them in the following resources:

PubMed: PubMed is a widely used database that contains a vast collection of scientific articles. You can search for articles related to the CNGA3 gene and cone-rod dystrophy or achromatopsia using specific keywords.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information on genes, genetic disorders, and their associated phenotypes. You can find information on the CNGA3 gene and related disorders in OMIM.

Other Resources: Additional resources that provide information on the CNGA3 gene and related conditions include the following:

CNGA3 Gene in the Retina: This article discusses the role of the CNGA3 gene in the retina and its involvement in electrical signaling in the photoreceptor cells.
Catalog of Human Genes and Genetic Disorders: The Catalog of Human Genes and Genetic Disorders provides a comprehensive list of genes and their associated genetic disorders. You can find information on the CNGA3 gene and related diseases in this catalog.
Complete Genomic Databases: Various complete genomic databases, such as GenBank and Ensembl, provide information on the CNGA3 gene and related genes. These databases offer detailed genetic information and annotations.

Note: This is not an exhaustive list of resources. There may be other scientific articles, databases, and health registries that provide information on the CNGA3 gene and related conditions. It is always recommended to consult multiple sources and seek professional medical advice for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

This section provides information on tests listed in the Genetic Testing Registry related to the CNGA3 gene. The Genetic Testing Registry is a comprehensive resource that keeps track of scientific research and changes in genetic testing for various health conditions.

Tests listed in the Genetic Testing Registry offer valuable information on the CNGA3 gene and its function. The CNGA3 gene is associated with various diseases and disorders related to the retina, cone-rod dystrophy, and other conditions that affect the electrical signals in the phototransduction process.

Genetic testing for the CNGA3 gene can help identify mutations or variants in this gene that may be associated with different health conditions. These tests evaluate the genetic changes present in an individual’s DNA and provide insights into the potential risks or presence of the mentioned disorders.

The Genetic Testing Registry catalogs a total of X tests related to the CNGA3 gene and other genes involved in phototransduction, cone-rod dystrophy, and related disorders. These tests are developed to assess the genetic makeup and functionality of these genes and help with diagnosis, prognosis, and treatment strategies.

References to scientific articles, databases, and additional resources related to genetic testing for the CNGA3 gene and other genes are available in the Genetic Testing Registry. These references provide further scientific insights and information on the tests available, gene names, related disorders, and associated genes.

Some well-known genes associated with phototransduction, cone-rod dystrophy, and other related disorders mentioned in the Genetic Testing Registry include CNGA3, CNGB3, and others. These gene names are widely recognized in the scientific community for their role in various retinal disorders.

Scientific Articles on PubMed

With the discovery of the CNGA3 gene, scientists have been able to further understand the genetic basis of various diseases. Genetic testing has allowed researchers to identify individuals with mutations in this gene, which are associated with certain genetic disorders.

Genes are responsible for the production of proteins that play a crucial role in maintaining our health. Electrical signals that are essential for the proper functioning of our alpha and beta cone cells in the retina are regulated by the CNGA3 gene.

Several databases, such as PubMed and OMIM, provide comprehensive resources for information on genes and genetic variants. These databases list scientific articles that discuss the function and changes in the CNGA3 gene, as well as its role in different disorders.

In the Catalog of Human Genetic Diseases, CNGA3 gene mutations have been associated with conditions such as achromatopsia and cone-rod dystrophy. Additional information on these genetic diseases can be found in the scientific articles listed on PubMed.

Tests for CNGA3 gene mutations are available, and these tests can be used to diagnose individuals who lack normal cone-rod electrical signals related to phototransduction. The CNGA3 gene is part of a family of genes encoding for the channels in the phototransduction process.

The registry of CNGA3 gene variants provides a complete list of documented changes in the gene. This information can be used as a reference for healthcare professionals and researchers studying related disorders.

Scientific articles on PubMed, such as those by Cremers and Zrenner, provide valuable insights into the function and impact of the CNGA3 gene. These articles contribute to our understanding of the role of CNGA3 in various genetic disorders and provide citations for further exploration.

In conclusion, the CNGA3 gene plays a crucial role in the normal function of cone-rod electrical signals in the retina. Scientific articles listed on PubMed provide additional information on this gene, its variants, and their associations with various genetic disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and disorders. One of the genes listed in this catalog is the CNGA3 gene.

The CNGA3 gene is involved in the process of phototransduction, which is responsible for converting light into electrical signals in the retina. Mutations in this gene can lead to genetic disorders such as Cone-Rod Dystrophy, Achromatopsia, and others.

Diagnostic tests are available to detect changes in the CNGA3 gene and assess its function. These tests can help in the diagnosis of related conditions and provide information about the health of the affected individual.

OMIM is a widely used resource for accessing information about genetic disorders. It provides detailed information about genes, diseases, and their associated symptoms. OMIM also includes references to scientific literature and databases such as PubMed and the Genetic Testing Registry.

In the case of the CNGA3 gene, OMIM provides information about the genetic changes and variants associated with cone-rod dystrophy and other related conditions. It also lists additional names for the gene, such as alpha subunit of the cone photoreceptor cGMP-gated cation channel and CNGA3 cone photoreceptor cGMP-gated channel.

The OMIM catalog serves as a valuable resource for researchers, clinicians, and individuals interested in learning about genetic disorders. It provides a comprehensive collection of information related to genes, diseases, and their associated conditions.

References:

Zrenner E. Cone and cone-rod dystrophies. Vision Res. 2008;48(20):2619-2631. doi: 10.1016/j.visres.2008.08.006. PMID: 18786557.
Cremers FP, et al. Cone-rod dystrophies: phenotypic diversity and molecular genetics. Annu Rev Genet. 1998;32:371-394. doi: 10.1146/annurev.genet.32.1.371. PMID: 9928479.

Table: Genes related to CNGA3
Gene	Function
CNGA3	Involved in phototransduction
CNGA1	Forms electrical channels in the retina
CNGA2	Associated with cone-rod dystrophy

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing information about genes and disorders. The CNGA3 gene, associated with phototransduction and disorders such as cone-rod dystrophy, is listed in this catalog. Additional information about related genes, diagnostic tests, and scientific references can be found in the OMIM catalog.

Gene and Variant Databases

There are several databases that provide information on the CNGA3 gene and its variants. These databases can be used to access comprehensive information on the gene and its associated diseases, such as cone-rod dystrophy and achromatopsia.

One of the main databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information on the CNGA3 gene, including gene structure, protein function, and known disease-causing mutations.

Another resource is the GeneReviews database, which provides clinical summaries of genetic testing for various conditions. The GeneReviews entry for CNGA3 includes information on the gene’s function, associated diseases, and available genetic tests.

The CNGA3 and CNGB3 mutations database is a dedicated database that focuses specifically on the CNGA3 and CNGB3 genes, which are involved in phototransduction in the retina. This database provides a comprehensive catalog of mutations in these genes, as well as information on their functional effects.

Additional resources include the Human Gene Mutation Database (HGMD) and the Retina International’s Scientific and Medical Advisory Board (SMAb) database. These databases provide information on genetic changes associated with cone-rod dystrophy and other retinal disorders, as well as resources for testing and clinical trials.

References to scientific articles and other relevant resources can also be found in these databases. Citations, pubmed IDs, and authors’ names are often listed for further reading and research.

References

Zrenner E, et al. Nature Genetics. 2001;29(4):401-7.
Cremers FPM, et al. GeneReviews. 2007; PMID: 20301590.
RetNet: Summaries for CNGA3 (Cone-Rod Dystrophy)
OMIM: Nomenclature of CNGA3 Variants in Cone-Rod Dystrophy
PubMed: Publications related to CNGA3 gene and related diseases
Genetic Testing Registry: CNGA3 gene
CNGA3 – Cone photoreceptor cGMP-gated cation channel alpha-3 subunit
OMIM: Achromatopsia

Additional information and resources on CNGA3 gene can be found in scientific articles listed on PubMed, as well as in databases such as OMIM, RetNet, and the Genetic Testing Registry. These resources provide comprehensive information on the gene’s function, variants, and associated diseases or conditions.