Contents
[hide]
[show]

The GNAT1 gene is a gene that is responsible for encoding the alpha subunit of the guanine nucleotide-binding protein (G-protein) in rod cells of the retina. This gene is known to be associated with several genetic conditions, including congenital stationary night blindness and genetic forms of retinitis pigmentosa.

GNAT1 is a dominant gene, which means that a single copy of the mutated gene is enough to cause the disease. Mutations in this gene can affect the function of the G-protein, leading to a disruption in the signal transduction process in rod cells. This can result in impaired vision, especially in low-light conditions.

Genetic testing for mutations in the GNAT1 gene can be used to confirm a diagnosis of congenital stationary night blindness or other related conditions. This can be done through tests such as DNA sequencing or targeted mutation analysis. Additional tests on other genes may also be necessary to rule out other possible causes of the disease.

Information on the GNAT1 gene and related diseases can be found in various scientific resources, such as PubMed, OMIM, and the Genetic Testing Registry. These databases provide references to scientific articles and genetic variant catalogs that contain valuable information on the genetic basis, clinical features, and management of these conditions.

The GNAT1 gene, also known as the guanine nucleotide-binding protein G(t) subunit alpha-1, is an autosomal dominant gene that is associated with various health conditions when there are genetic changes or variants in this gene.

One of the most common conditions associated with changes in the GNAT1 gene is congenital stationary night blindness (CSNB). CSNB is a group of genetic diseases that affect the retina and cause vision problems, especially in low light conditions.

Major health insurance companies have faced legal trouble over their claim denial practices. In February 2018, the insurance commissioner of California announced plans to investigate Aetna’s coverage denial practices after a former medical director of the insurance company admitted that he never once looked at a patient’s medical records when deciding whether to deny claims over the three years he worked in the position, according to CNN.

Genetic testing is available for the GNAT1 gene to diagnose CSNB and other related conditions. This testing can be done through various resources such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles listed on PubMed, and genetic testing catalogs.

By searching for “GNAT1 gene” or “guanine nucleotide-binding protein G(t) subunit alpha-1” on databases like PubMed and OMIM, additional information and scientific references on related health conditions can be found.

It is important to note that genetic changes in the GNAT1 gene can also lead to changes in other genes involved in the functioning of cell signaling pathways, which can have an impact on various health conditions beyond just vision-related diseases.

In summary, the GNAT1 gene is associated with various health conditions, with a focus on retinal diseases like congenital stationary night blindness. Genetic testing and resources such as OMIM and PubMed can provide additional information and scientific references on related conditions.

Autosomal dominant congenital stationary night blindness

Autosomal dominant congenital stationary night blindness (ADCSNB), also known as nocturnal blindness, is a genetic condition that affects the normal functioning of the retina, a layer of specialized cells in the back of the eye.

ADCSNB is caused by mutations in the GNAT1 gene, which provides instructions for making the alpha-1 subunit of the guanine nucleotide-binding protein (G-protein). This protein plays a key role in the signal transmission process between the light-sensitive cells of the retina and the brain.

People with ADCSNB have difficulty seeing in low-light conditions, particularly at night. Their vision may also be affected during the day, but to a lesser extent. Generally, individuals with ADCSNB have normal central vision and a relatively stable condition throughout their lives.

Diagnosis of ADCSNB is often based on a combination of clinical symptoms and genetic testing. Genetic testing can identify changes in the GNAT1 gene that are associated with the condition. The tests are typically performed on a blood sample or a cheek swab, and can be ordered by a healthcare provider or through commercial laboratories that offer genetic testing services.

See also  Genes T

Additional information about ADCSNB and related genetic conditions can be found in scientific articles and databases such as PubMed and OMIM. The Genetic Testing Registry is another resource that provides information on available genetic tests for ADCSNB and other diseases.

Treatment for ADCSNB is currently limited, and there are no specific medications or surgeries to cure the condition. However, individuals with ADCSNB can manage their symptoms and improve their quality of life by using low-vision aids, such as glasses or contact lenses, and by making adjustments to their daily routines to accommodate their visual impairment.

In conclusion, autosomal dominant congenital stationary night blindness is a genetic condition that affects the normal functioning of the retina. Genetic testing and other resources can provide valuable information for the diagnosis and management of this condition.

Other Names for This Gene

The GNAT1 gene is also known by other names, including:

  • CGMP phosphodiesterase alpha-1 subunit
  • GNAT1A
  • GNAT1B
  • cone guanine nucleotide-binding protein alpha-1 subunit
  • guanine nucleotide-binding protein G(t) subunit alpha-1
  • PDE5C1
  • retGC1

These names have been used by different sources to refer to the same gene, and they are all related to its function and characteristics.

The GNAT1 gene is associated with various genetic conditions, including:

  • Autosomal dominant stationary night blindness
  • Congenital stationary night blindness
  • Nougaret-type congenital stationary night blindness
  • Retinitis pigmentosa

These diseases are characterized by changes in the retina and result in vision problems, particularly in low-light conditions at night.

Additional information about this gene and related genetic conditions can be found in various scientific databases, including:

  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – a database of published medical articles
  • GeneTests – a medical genetic testing information resource
  • GeneReviews – expert-authored, peer-reviewed genetic disease descriptions

These resources provide valuable information for researchers, healthcare professionals, and individuals seeking information on genetic conditions associated with the GNAT1 gene.

Further research and testing are ongoing to better understand the role of this gene variant in different diseases and conditions.

Overall, the GNAT1 gene plays a crucial role in vision and is involved in various genetic conditions that affect the retina and vision. Its study and understanding are essential for the development of treatments and interventions for these conditions.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides information on the GNAT1 gene and its related conditions such as congenital stationary night blindness.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and biology. It contains numerous references related to the GNAT1 gene and its role in retinal diseases.
  • Registry of Genetic Cellular Traits: The Registry of Genetic Cellular Traits (RGCT) is a database that lists genes associated with various genetic diseases. It includes information on the GNAT1 gene and its variants.
  • Clinical Genetic Testing: Clinical genetic testing can be performed to identify changes in the GNAT1 gene that may be responsible for inherited retinal diseases. This testing can help in diagnosis and genetic counseling.
  • Other Genes: Apart from GNAT1, there are other genes involved in the function of the retina and the visual system. These genes can be explored for additional information on related conditions and studies.

Tests Listed in the Genetic Testing Registry

The GNAT1 gene, also known as the guanine nucleotide-binding protein G(t) subunit alpha-1, plays a crucial role in the functioning of the retina and the brain. Mutations in this gene lead to autosomal dominant congenital stationary night blindness, a condition where individuals have difficulty seeing in low light conditions.

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and their associated information. It provides a centralized resource for scientists, healthcare professionals, and the general public to access information about genetic tests available for various conditions. The GTR includes tests for the GNAT1 gene and other related genes.

Tests listed in the GTR are categorized by the names of genes they target. For the GNAT1 gene, the GTR provides information about the specific tests available for detecting changes in this gene. These tests are designed to identify variants or mutations in the GNAT1 gene that may be associated with congenital stationary night blindness.

See also  3-beta-hydroxysteroid dehydrogenase deficiency

In addition to the GTR, there are other databases and resources where users can find more information about the GNAT1 gene and related conditions. These resources include PubMed, a database of scientific articles, and OMIM, an online catalog of genetic diseases and their associated genes.

Genetic testing plays a crucial role in the diagnosis and management of genetic conditions. Through these tests, healthcare professionals can identify genetic variants or mutations that may be contributing to a patient’s health issues. In the case of the GNAT1 gene, genetic testing can provide valuable information about the underlying cause of autosomal dominant congenital stationary night blindness.

For individuals interested in learning more about GNAT1 gene testing, it is recommended to consult with a healthcare professional or genetic counselor. They can provide personalized information and guidance based on an individual’s specific health history and concerns.

References:

  1. “GNAT1 gene.” Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/3440/overview/
  2. “GNAT1 gene – Genetics Home Reference.” U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/GNAT1
  3. “GNAT1 gene – OMIM Entry.” Johns Hopkins University. Retrieved from https://omim.org/entry/139330

Scientific Articles on PubMed

The GNAT1 gene, also known as alpha-1 subunit of rod cell-specific guanine nucleotide-binding protein, is associated with genetic diseases related to the retina, such as autosomal dominant congenital stationary night blindness (ADCSNB). ADSNB is a condition where the retinal cells responsible for vision in low-light conditions fail to function correctly.

PubMed is a widely-used scientific research database that provides information on various topics including genes, genetic diseases, and health conditions. The database contains a wealth of scientific articles related to the GNAT1 gene and its associated conditions.

Some of the scientific articles listed in PubMed related to the GNAT1 gene include:

  1. “Genetic changes in the GNAT1 gene and their impact on inherited retinal diseases” – This article explores the specific genetic changes observed in the GNAT1 gene and their effects on inherited retinal diseases.
  2. “Role of GNAT1 gene variants in congenital stationary night blindness” – This article discusses the role of GNAT1 gene variants in causing congenital stationary night blindness, a condition characterized by impaired night vision.
  3. “Functional analysis of GNAT1 gene mutations in patients with stationary night blindness” – This article examines the functional consequences of GNAT1 gene mutations in patients with stationary night blindness, shedding light on the molecular mechanisms underlying the condition.

These articles provide valuable insights into the role of the GNAT1 gene in the development of genetic diseases and conditions related to the retina. They contribute to our understanding of the underlying mechanisms and potential treatment options for these conditions.

For additional information on the GNAT1 gene and related conditions, researchers can also consult resources such as OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the GNAT1 gene and its association with conditions such as congenital stationary night blindness. These articles provide important information for researchers and healthcare professionals working in the field of genetics and ophthalmology.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and their associated diseases. OMIM, short for Online Mendelian Inheritance in Man, is a database that collects and catalogs genetic information related to human health conditions.

OMIM lists numerous genes involved in a wide range of diseases and conditions. One such gene is the GNAT1 gene, also known as G protein subunit alpha-1, which is associated with autosomal dominant congenital stationary night blindness. This genetic variant causes changes in the retina’s cell signaling pathway, specifically the cyclic guanosine monophosphate–phosphodiesterase (cGMP-PDE) cascade.

OMIM provides in-depth information on the GNAT1 gene and its related diseases. The catalog includes scientific articles, references, and other resources that shed light on the gene’s function and its role in night blindness. Researchers and healthcare professionals can access this information for genetic testing and further study.

In addition to the GNAT1 gene, OMIM features a wide range of genes and their associated diseases. The database serves as a registry for genetic conditions and provides valuable information for diagnosis, treatment, and research. Users can search for specific genes or diseases and retrieve relevant information from OMIM.

See also  Hypermanganesemia with dystonia

OMIM also collaborates with other databases and resources, such as PubMed. This collaboration ensures that the information in OMIM is up-to-date and consistent with the latest scientific research. Users can access PubMed references for further reading and exploration of specific genes and diseases.

The Catalog of Genes and Diseases from OMIM is an invaluable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. Its comprehensive information on genes, diseases, and associated references provides a platform for understanding and advancing our knowledge of human genetics and health conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the GNAT1 gene and related variants. These databases compile comprehensive information on genes, variants, and associated diseases, providing a platform for storing, sharing, and analyzing genetic data. Some popular gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive source of information on genetic diseases, including GNAT1-related conditions. It provides references to scientific articles, genetic testing resources, and additional information on related genes and variants.
  • Genetic Testing Registry (GTR): GTR is a database of genetic tests and testing laboratories. It lists genetic tests for various conditions, including GNAT1-related disorders like congenital stationary night blindness. The GTR provides information on test validity, availability, and related conditions.
  • ClinVar: ClinVar is a freely accessible database that collects information about DNA variations and their relationship to human health. It includes information on GNAT1 variants and allows researchers to submit and share their own test results and interpretations.
  • PubMed: PubMed is a vast biomedical database that allows users to search and access scientific articles related to GNAT1 and associated diseases. It provides valuable information on the molecular mechanisms, clinical features, and treatment options for various conditions.
  • GENETIC CATALOG: GENETIC CATALOG is an online resource that compiles information on human genes and genetic variants. It includes information on the GNAT1 gene and its subunit alpha-1, along with details on changes and mutations associated with diseases like congenital stationary night blindness.

These gene and variant databases serve as invaluable tools for researchers and clinicians working on understanding the GNAT1 gene and its role in health and diseases. They provide a centralized repository of information that can aid in diagnosis, research, and therapeutic development.

References

  • Clinical and genetic testing resources for GNAT1-related diseases:

    • – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variants associated with congenital stationary night blindness (CSNB) caused by the GNAT1 gene. It catalogues the names of genes listed in the literature and databases.
    • – The PubMed database contains scientific articles on GNAT1-related conditions.
    • – Additional information on GNAT1 can be found in the GeneTests GeneReviews, a comprehensive registry of information related to genetic testing and inherited diseases.

  • Genetic testing resources:

    • – The Nougaret Stationary Night Blindness Variant database contains information on genetic changes in the GNAT1 gene.
    • – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variants associated with CSNB caused by the GNAT1 gene.
    • – The GeneTests GeneReviews provides comprehensive information on testing and related resources for genetic diseases.

  • Scientific articles and other publications:

    • – PubMed is a valuable resource for finding scientific articles on GNAT1 and related topics.
    • – The National Center for Biotechnology Information (NCBI) provides a comprehensive collection of scientific articles and publications on various aspects of the GNAT1 gene and its role in inherited diseases.

  • Genetic variant databases and registries:

    • – The Nougaret Stationary Night Blindness Variant database provides information on genetic changes in the GNAT1 gene.
    • – The GeneTests GeneReviews is a comprehensive registry of information related to GNAT1 genetic testing and inherited diseases.
    • – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variants associated with CSNB caused by the GNAT1 gene.

  • Other resources:

    • – The National Center for Biotechnology Information (NCBI) provides additional resources and information on GNAT1 and related genes and diseases.
    • – The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variants associated with CSNB caused by the GNAT1 gene.

Related Posts