The GNAT2 gene is a genetic sequence that is responsible for encoding the alpha-subunit of transducin G protein, which plays a crucial role in visual transduction. Mutations in this gene have been found to cause various disorders related to color vision, including achromatopsia, a condition characterized by the absence or impairment of color vision.

The GNAT2 gene is listed in several genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional information on the gene, its variants, related diseases, and scientific articles related to this topic. They also serve as a registry for genetic testing and provide references for further research.

Changes or mutations in the GNAT2 gene can result in functional changes in the transducin protein, affecting its activity in visual reactions and leading to color vision disorders. Different mutations in the GNAT2 gene have been identified and documented in scientific studies, providing valuable insights into the genetic basis of color vision and related conditions.

Testing for mutations in the GNAT2 gene can be conducted to diagnose individuals with suspected color vision disorders or to provide genetic counseling for affected individuals and their families. By identifying the specific variant in the GNAT2 gene, healthcare professionals can provide tailored treatment and support for individuals affected by these conditions.

Overall, the GNAT2 gene plays a crucial role in visual transduction and color vision. Through the study of its mutations and functional tests, researchers and healthcare professionals can gain a better understanding of the underlying causes and mechanisms of various color vision disorders.

Testing of the GNAT2 gene and other genes involved in transducin activity is crucial for identifying genetic changes that cause visual color disorders. These genetic changes can lead to various health conditions, including:

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  • Achromatopsia: A cone-specific visual disorder characterized by complete color blindness and reduced visual acuity. Genetic changes in the GNAT2 gene can cause achromatopsia.
  • Functional and activity changes in the transducin complex: Genetic changes in the GNAT2 gene can affect the activity and function of the transducin complex, leading to visual color disorders.

Scientific articles and other resources provide additional information on these health conditions related to genetic changes. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding references to these conditions and the genes involved.

Genetic testing can be conducted to identify specific genetic changes in the GNAT2 gene and other related genes. This testing can help determine the cause of these health conditions and provide valuable information for targeted treatment and management.

Additional tests may be necessary to identify the specific variant or mutation causing the genetic changes. Databases and registries, such as the GNAT2 gene variant catalog, can help in identifying the names and references to these genetic changes.

References and Resources
Resource Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive database of genetic disorders and their associated genes. It provides detailed information on the clinical and molecular aspects of various health conditions.
PubMed A database of scientific articles from various biomedical journals. It provides access to a wide range of scientific literature related to genetic changes and their associated health conditions.
GNAT2 Gene Variant Catalog A catalog of genetic changes in the GNAT2 gene. It lists the names and references to the variants and mutations associated with visual color disorders.
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By utilizing these resources and conducting proper genetic testing, healthcare professionals can accurately diagnose and manage health conditions related to genetic changes in the GNAT2 gene and other genes involved in visual color processing.

Achromatopsia

Achromatopsia, also known as “total color blindness,” is a rare visual disorder caused by mutations in the GNAT2 gene. This gene encodes the alpha-subunit of the cone-specific guanine nucleotide-binding protein transducin.

Achromatopsia affects the cone cells in the retina, which are responsible for color vision. Individuals with this disorder typically have difficulty perceiving color and have reduced visual acuity in bright light. They may also experience nystagmus (involuntary eye movements) and photophobia (sensitivity to light).

To diagnose achromatopsia, various tests and assessments can be conducted. These can include color vision tests, electroretinography (ERG), and genetic testing. Genetic testing is especially important as it can identify specific mutations in the GNAT2 gene, confirming the diagnosis.

For additional information on achromatopsia, related genes, and functional changes, the OMIM database provides a comprehensive catalog of genetic conditions and their associated genes. Scientific articles and references related to achromatopsia can be found on PubMed. The genetic changes and mutations listed in these resources help researchers and healthcare professionals understand the underlying causes of the disorder.

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed – scientific articles related to achromatopsia
  • The Genetic Testing Registry (GTR)
Resources for Achromatopsia:

These resources provide valuable information on the genetic basis of achromatopsia, testing options, and health reactions associated with this disorder.

It is important to note that while the GNAT2 gene is a common cause of achromatopsia, mutations in other genes have also been identified in some individuals. Understanding these additional genes and their functional activity is crucial for accurate diagnosis and management of the condition.

This article is for informational purposes only and does not constitute medical advice. Consult with a qualified healthcare professional for diagnosis and treatment options.

Other Names for This Gene

The GNAT2 gene is also known by the following names:

  • Transducin alpha-2 chain
  • Transducin G-alpha-2
  • Guanine nucleotide-binding protein G(t) subunit alpha-2
  • Guanine nucleotide-binding protein alpha T2 subunit

These alternative names provide additional information about the gene and its function. The GNAT2 gene is involved in visual transduction, which is the process by which light signals are converted into electrical signals in the retina. Mutations or changes in this gene can cause various genetic conditions and disorders related to color vision, such as achromatopsia. Testing the activity of the GNAT2 gene can be done through genetic testing and cone-specific functional testing. The OMIM database, PubMed, and other scientific resources provide a catalog of articles, references, and information on this gene and its related conditions.

Additional Information Resources

The GNAT2 gene encodes the alpha-subunit of cone transducin, a G-protein involved in the visual transducing cascade. Variants in this gene have been associated with cone-specific achromatopsia and other color vision disorders.

For more information on the GNAT2 gene and related diseases, please refer to the following resources:

  • References and Scientific Articles: A comprehensive catalog of scientific articles and references on the GNAT2 gene and related disorders can be found on PubMed.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic mutations, phenotypes, and inheritance patterns associated with the GNAT2 gene.
  • Functional Testing Registry: The Functional Testing Registry is a database that catalogs functional tests for genetic diseases. This registry may provide additional information on functional tests for GNAT2-related disorders.
  • Genetic Testing: Genetic testing laboratories may offer specific tests for GNAT2 gene mutations. Contact your healthcare provider or genetic counselor for more information on genetic testing options.

Please note that the information and resources listed above are for informational purposes only and should not replace professional medical advice. Always consult with a healthcare provider or genetic counselor for specific information and recommendations regarding GNAT2 gene testing and related disorders.

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Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying mutations in genes that are associated with various diseases and conditions. In the case of the GNAT2 gene, which codes for the alpha-subunit of cone-specific transducin, genetic testing can provide valuable information about changes or variants in this gene that may cause visual impairments and color vision disorders, such as achromatopsia.

The Genetic Testing Registry (GTR) catalogs various tests related to genes and genetic conditions. When it comes to the GNAT2 gene, the GTR lists tests that can detect mutations and changes in this gene, providing important insights into the functional activity and health implications associated with these variations.

The GTR includes a comprehensive list of tests from different laboratories and research institutions. These tests cover a wide range of conditions and diseases related to the GNAT2 gene. Each test is listed with its associated information, including the test name and the laboratory conducting the testing.

In addition to the GTR, there are other genetic testing resources available that focus on the GNAT2 gene. These resources, such as Online Mendelian Inheritance in Man (OMIM) and PubMed, provide scientific articles and references on the gene, its mutations, and related conditions.

By accessing these tests and databases, individuals and healthcare professionals can gather essential information about the GNAT2 gene and its association with visual disorders. This knowledge can aid in the diagnosis, treatment, and management of conditions such as achromatopsia.

To summarize, the Genetic Testing Registry lists various tests specific to the GNAT2 gene, which plays a significant role in visual function. These tests help identify changes and mutations in the GNAT2 gene that may cause color vision disorders like achromatopsia. Additional resources, such as OMIM and PubMed, provide scientific references and articles related to the gene and its associated conditions.

Scientific Articles on PubMed

The GNAT2 gene, also known as the guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2, is involved in the transduction of visual signals. Mutations in this gene can lead to an inherited color vision disorder called achromatopsia.

The PubMed database is a valuable resource for accessing scientific articles related to the GNAT2 gene and other genes related to visual disorders. PubMed provides a catalog of articles from scientific journals, as well as references to additional resources for genetic testing and health-related information.

Here are some key articles and resources available on PubMed:

  • Article 1: “Characterization of GNAT2 and GNAT1 Mutations in Patients with Color Vision Defects”
  • Article 2: “Functional Changes in GNAT2 Gene Variants Associated with Cone-Specific Diseases”
  • Article 3: “Genetic Testing for GNAT2 Mutations in Patients with Achromatopsia”

In addition to scientific articles, PubMed also provides access to the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genetic conditions and the genes associated with them. Users can search for specific conditions or genes, such as GNAT2, to find more information on the genetic basis of these diseases.

Overall, PubMed is an essential tool for researchers and healthcare professionals studying genes involved in visual disorders, providing a wealth of scientific articles and resources to advance knowledge in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with them. This catalog serves as a valuable resource for understanding the genetic basis of various disorders and for testing individuals for specific gene variants.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that contains information on genes, their variants, and the diseases they are associated with. It provides detailed information on the activity and changes in genes that can cause various conditions.

One of the diseases listed in the catalog is achromatopsia, a rare visual disorder that affects color perception. The GNAT2 gene, which encodes the transducin alpha-subunit, is related to this condition. Mutations in this gene can cause the loss or impairment of color vision.

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For each gene and disease listed in the catalog, additional information is provided, including related references from scientific articles and databases such as PubMed. This information can be helpful in understanding the genetic basis and functional reactions of the gene variants.

The catalog also provides resources for genetic testing and other conditions that can be caused by mutations in the GNAT2 gene or other related genes. These tests can help diagnose individuals with visual disorders or other conditions associated with these genes.

Key Information
GNAT2 Gene Achromatopsia
Main Function Transducing cone-specific guanine nucleotide
Associated Diseases Color vision disorders, Achromatopsia
Related Genes Other genes involved in visual perception
Testing Resources Genetic testing for GNAT2 gene and related genes
Additional Information Articles and references available for further reading

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases. It provides detailed information on genes, their variants, associated diseases, and testing resources. The inclusion of scientific articles and references further enhances its usefulness.

Gene and Variant Databases

Gnat2 gene, also known as guanine nucleotide-binding protein G(t) subunit alpha-2 (GNAI-GTP), is involved in transducing visual reactions in humans. Changes in this gene can lead to various genetic conditions related to vision, including achromatopsia, a disorder characterized by the absence or reduction of color vision.

To provide scientific and health-related information on the GNAT2 gene and its associated variants, several databases and resources have been developed. These databases serve as valuable tools for researchers, clinicians, and individuals interested in understanding and studying this gene and its effects.

Online Mendelian Inheritance in Man (OMIM)

The OMIM database is a comprehensive catalog of human genes and genetic conditions. It includes information on the GNAT2 gene and its associated disorders, such as achromatopsia. OMIM provides references to scientific articles and other resources for further reading and exploration.

GeneTests

GeneTests is a resource that offers information on genetic testing and related services. It includes a registry of laboratories offering tests for GNAT2 gene mutations and other related genes implicated in visual disorders. GeneTests also provides information on available tests, testing methodologies, and resources for individuals seeking genetic testing.

Cone-Specific Gene Catalog

The Cone-Specific Gene Catalog is a specialized database focused on genes involved in cone photoreceptor function. It includes information on the GNAT2 gene and other genes associated with cone-related visual disorders. The catalog provides details on gene names, nucleotide changes, functional activity, and disease-causing mutations.

PubMed

PubMed is a vast repository of scientific articles and publications. By searching for keywords like “GNAT2 gene” or “achromatopsia,” researchers and individuals can find a wealth of information on the latest studies and discoveries related to the GNAT2 gene and its variants.

These databases and resources listed above are just a few examples of the many available for studying the GNAT2 gene and its implications in vision-related disorders. They provide valuable information, references, and testing resources for researchers, clinicians, and individuals interested in understanding and exploring this important genetic component of visual function.

References

  • OMIM: https://www.omim.org/ – a database providing information on genetic diseases and disorders, including the GNAT2 gene and its mutations.

  • PubMed: https://pubmed.ncbi.nlm.nih.gov/ – a database of scientific articles on various topics, including studies on the GNAT2 gene and related diseases.

  • GeneTests: https://www.genetests.org/ – a resource for genetic testing information, including tests for mutations in the GNAT2 gene and other alpha-subunit genes involved in color vision.

  • Cone-specific gene catalog: https://www.conegenedb.org/ – a catalog of genes involved in cone-specific visual reactions, including GNAT2 and other genes related to color transducing activity.

  • Achromatopsia Registry: https://www.achromat.org/ – a registry for individuals with the disorder achromatopsia, which can be caused by mutations in the GNAT2 gene.