The GNAI3 gene, also known as the nucleotide-binding protein subunit alpha-3, is a gene that is related to various genetic conditions and syndromes. It is one of the subunits of the G proteins, a family of proteins that play a crucial role in signaling pathways.
Changes or variations in the GNAI3 gene have been associated with different diseases and conditions, including auriculo-condylar syndrome, Amiel syndrome, and Gordon syndrome. Testing for these variations in the GNAI3 gene can be performed to determine if an individual is at risk for developing these conditions.
For additional information on the GNAI3 gene and related genes, there are various resources available. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. PubMed is a scientific database that provides references to articles on genetics and health. The Genetic Testing Registry (GTR) lists available genetic tests for the GNAI3 gene and other related genes.
These resources can be helpful in understanding the role of the GNAI3 gene in various conditions and syndromes, as well as providing information on available tests and resources for testing and further research.
Health Conditions Related to Genetic Changes
Genetic changes in the GNAI3 gene have been related to several health conditions. These conditions can be diagnosed through genetic testing and are often registered in databases and registries.
One such condition related to genetic changes in the GNAI3 gene is the Auriculo-condylar syndrome. This syndrome is caused by a variant in the GNAI3 gene and can result in various physical and developmental abnormalities.
Other health conditions related to genetic changes in the GNAI3 gene include Gordon syndrome and Amiel syndrome. These conditions are also caused by variants in the GNAI3 gene and can result in a range of symptoms and complications.
To diagnose these health conditions, genetic testing is often performed. These tests can detect changes in the nucleotide sequence of the GNAI3 gene and provide important information about the genetic variant present.
Scientific articles and references from databases such as PubMed, OMIM, and other scientific resources can provide additional information about these health conditions and the genetic changes associated with them.
| Condition | Description | Gene |
|---|---|---|
| Auriculo-condylar syndrome | This syndrome is characterized by abnormalities in the development of the ears and jaw. It is caused by genetic changes in the GNAI3 gene. | GNAI3 |
| Gordon syndrome | Gordon syndrome is a rare genetic disorder that affects the muscles and bones. It is caused by genetic changes in the GNAI3 gene. | GNAI3 |
| Amiel syndrome | Amiel syndrome is a genetic disorder that affects the development of the intestines and nervous system. It is caused by genetic changes in the GNAI3 gene. | GNAI3 |
These health conditions related to genetic changes in the GNAI3 gene highlight the importance of genetic testing and the role of the GNAI3 gene in various diseases and conditions. The information available in scientific databases and resources can help in understanding and diagnosing these conditions.
Auriculo-condylar syndrome
Auriculo-condylar syndrome is a genetic disorder caused by changes in the GNAI3 gene. This gene provides instructions for making a protein that is a subunit of a group of proteins called G proteins. G proteins help transmit signals from outside the cell to the cell’s nucleus. The GNAI3 gene is located on the long (q) arm of chromosome 1 at position 21.3.
Individuals with auriculo-condylar syndrome may have additional changes in other genes, such as the GNAI3 gene. These changes can result in a wide range of signs and symptoms, including distinctive facial features, hearing loss, and problems with the development of the ears and jaws.
Scientific researchers have conducted tests to study the GNAI3 gene and its role in auriculo-condylar syndrome. Through these tests, they have identified genetic changes, or variants, in the GNAI3 gene that are associated with this syndrome.
For further information about auriculo-condylar syndrome, related genes, and other genetic conditions, relevant articles can be found in scientific databases such as PubMed. Genetic testing can be carried out to confirm the presence of genetic changes in the GNAI3 gene and diagnose auriculo-condylar syndrome.
In addition to genetic testing, there are resources available for individuals and families affected by auriculo-condylar syndrome. These resources include support groups, patient registries, and references to genetic counseling services. These resources can provide further information, support, and assistance in managing the condition.
Overall, auriculo-condylar syndrome is a rare condition associated with genetic changes in the GNAI3 gene. Understanding the role of this gene and its variants can aid in the diagnosis and treatment of individuals with this syndrome.
Other Names for This Gene
- Scientific name: GNAI3 gene
- Lower case name: gnai3 gene
- Gene symbol: GNAI3
- OMIM: 139330
- Alternative symbols: G protein subunit alpha i3, alpha inhibiting activity locus 3
- Related proteins: GNAI1, GNAI2, GNAI3
- Related genes: Not available
- Test Registry: GNAI3
Changes in the GNAI3 gene have been associated with Auriculo-Condylar Syndrome, a rare genetic condition that affects normal development of the ear, mandible, and other facial structures. Patients with this syndrome may exhibit hearing loss, facial abnormalities, and other health problems. Genetic tests for mutations in the GNAI3 gene can be ordered from various resources such as the OMIM database, which provides information about the gene, associated diseases, and references to scientific publications on the subject.
Additional testing for conditions related to GNAI3 gene mutations can be done through genetic testing laboratories and registries. The GNAI3 gene is part of a family of genes that encode for the alpha subunits of G proteins, which are important in signal transduction pathways in cells. Mutations in these genes can have wide-ranging effects on cellular processes and can contribute to the development of various diseases.
For more information about the GNAI3 gene, its associated diseases, and available testing options, individuals can consult genetic databases such as PubMed, which provides access to scientific literature and genetic variant information.
Additional Information Resources
- Information: The GNAI3 gene, also known as guanine nucleotide-binding protein G(i) subunit alpha-3, is involved in numerous biological processes and is associated with various diseases and conditions.
- Names: The gene is also referred to as G-alpha-I3, GNAI-3, AURKC, GSP, and GSP subunit alpha-3.
- Registry: The GNAI3 gene is listed in various genetic databases and registries, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR).
- Other Genes: The GNAI3 gene is part of a family of genes known as guanine nucleotide-binding proteins. Other related genes include GNAI1, GNAI2, GNAI3, and GNAI4.
- Testing: Genetic testing for variations in the GNAI3 gene can help identify genetic diseases and conditions associated with this gene. Various tests are available for this purpose.
- Diseases and Conditions: Variations in the GNAI3 gene have been implicated in several genetic syndromes and diseases, including auriculo-condylar syndrome, Gordon syndrome, and others.
- Articles and References: There are numerous scientific articles, publications, and references available on the GNAI3 gene and its related proteins. PubMed is a popular database for accessing these resources.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a resource that provides a comprehensive catalog of genetic tests and their associated information. It aims to help healthcare professionals and individuals make informed decisions about genetic testing for various health conditions.
The GTR includes tests for the auriculo-condylar syndrome, which is caused by changes in the GNAI3 gene. This gene encodes for G proteins, which are involved in various cellular processes and play a crucial role in normal physiological functions.
Tests listed in the GTR provide information on the specific gene being tested, the associated conditions, and the type of testing available. They also provide references to scientific articles, databases, and other resources for additional information.
For the GNAI3 gene, the GTR lists tests for the Gordon syndrome and Amiel syndrome, as these conditions are known to be related to changes in this gene.
The GTR provides variant names, nucleotide-binding changes, and changes in subunits of the G proteins associated with the GNAI3 gene. This information is crucial for accurately identifying and diagnosing genetic conditions.
Healthcare professionals can access the GTR to find information on available tests, related diseases, and additional resources. They can also find references to scientific articles and databases such as OMIM and PubMed for further research.
In summary, the GTR is a valuable resource that lists tests for various genes and associated conditions. For the GNAI3 gene, it provides information on tests for Gordon syndrome, Amiel syndrome, and other related diseases. Healthcare professionals can use the GTR to access up-to-date information on genetic testing and make informed decisions about patient care.
Scientific Articles on PubMed
There are several scientific articles on PubMed that provide valuable information about the GNAI3 gene and its related diseases and conditions. The GNAI3 gene, also known as nucleotide-binding protein subunit alpha-3, is a gene that encodes for a subunit of the G protein, which is involved in signal transduction.
One of the conditions related to the GNAI3 gene is the auriculo-condylar syndrome, which is a genetic disorder characterized by the development of the lower jaw and ears. This syndrome is caused by changes or variants in the GNAI3 gene and has been extensively studied in scientific articles.
In addition to the auriculo-condylar syndrome, the GNAI3 gene is also associated with other diseases and conditions. Scientific articles on PubMed provide detailed information about these conditions and the role of the GNAI3 gene in their development.
PubMed is a well-known database that houses a vast number of scientific articles on various genes, including GNAI3. This database can be accessed online and is a valuable resource for researchers and healthcare professionals seeking information on genetic testing and related health conditions.
When searching for scientific articles on PubMed related to GNAI3, it is important to use appropriate search terms such as “GNAI3 gene,” “auriculo-condylar syndrome,” and other relevant keywords. This will help in finding the most relevant articles and resources for further study.
Each article listed on PubMed provides detailed information about the genetic tests, changes or variants in the GNAI3 gene, proteins and subunits associated with it, and additional references to related articles and databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
Scientific articles on PubMed are a valuable source of information for researchers, healthcare professionals, and individuals interested in learning more about the GNAI3 gene and its related diseases and conditions. They provide a comprehensive overview of the latest research and findings in the field of genetics and can help in better understanding and managing these conditions.
In summary, PubMed is a reliable platform that provides access to a wide range of scientific articles on genes, including GNAI3. These articles offer valuable information on genetic testing, diseases, conditions, and related resources, making it an essential tool for anyone interested in the field of genetics and health.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic disorders. It provides a curated collection of information on genes and their associated diseases, drawing from various scientific resources such as PubMed. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and related information.
One of the genes listed in the OMIM database is the GNAI3 gene. GNAI3 stands for “guanine nucleotide-binding protein (G protein), alpha inhibiting activity polypeptide 3.” It is involved in the regulation of various cellular processes and signaling pathways.
The OMIM catalog includes information on the genetic changes or variants associated with the GNAI3 gene, as well as related conditions and syndromes. For example, one condition associated with GNAI3 gene mutations is Amiel syndrome, an autosomal recessive disorder characterized by various developmental abnormalities.
The OMIM database provides not only the official gene name, but also any other names or aliases the gene may be known by. This helps users access relevant information about the gene from different sources or databases.
For healthcare professionals and individuals seeking genetic testing, the OMIM catalog provides a list of available tests for the GNAI3 gene. This information allows them to explore diagnostic options and make informed decisions about their health and medical care.
In addition to genes and associated diseases, the OMIM catalog also includes articles and references related to specific genes and conditions. This allows users to access scientific literature and stay up-to-date with the latest research in the field of genetics.
Furthermore, the OMIM database provides a registry of genetic conditions and offers resources for additional genetic testing, such as panels for related genes or subunits. For example, in the case of GNAI3, the catalog may list other genes or subunits related to its functioning or signaling pathways.
The availability of comprehensive information in the OMIM catalog facilitates genetic research, improves the understanding of genetic disorders, and contributes to the advancement of healthcare practices related to genetics.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource that provides a curated collection of information on genes, associated diseases, genetic testing, and related scientific articles. It plays a crucial role in the field of genetics and serves as a reference for researchers, healthcare professionals, and individuals seeking genetic information.
Gene and Variant Databases
Gene and variant databases are valuable resources for genetic testing and research. They provide comprehensive information on genes, variants, and their associated diseases and conditions. These databases serve as a registry for genetic changes identified in different populations and offer a wealth of information on the function and significance of these changes.
One of the most prominent databases is the Online Mendelian Inheritance in Man (OMIM). It catalogues genes and their associated genetic conditions, providing detailed descriptions and references to scientific articles. OMIM is a comprehensive resource that includes genes related to a wide range of diseases and conditions.
Another important database is PubMed, which hosts a vast collection of scientific articles. Researchers and healthcare professionals can search PubMed for information on genes, variants, and their relationship to diseases. PubMed serves as a central hub for accessing the latest research in the field of genetics.
In addition to OMIM and PubMed, there are several other databases that focus on specific genes or groups of genes. These databases provide detailed information on the function, structure, and variants of specific genes. For example, the GNAI3 gene, which encodes the G protein subunit alpha i3, is associated with the auriculo-condylar syndrome and lower-limb anomalies.
Gene and variant databases also provide information on nucleotide-binding subunits of genes and their functional properties. They can help researchers and healthcare professionals better understand the molecular processes involved in genetic diseases. These databases are constantly updated with new findings and discoveries, ensuring the most up-to-date information is available.
Genetic testing laboratories often rely on these databases to aid in the interpretation of test results. By comparing the identified variants with the information listed in the databases, laboratories can determine the pathogenicity and clinical relevance of the genetic changes.
Overall, gene and variant databases are essential resources for genetic research, healthcare professionals, and individuals seeking information on genetic conditions. They provide a wealth of knowledge and references to scientific articles, serving as valuable tools in the field of genetics.
References
- Gordon CT, Vuillot A, Marlin S, et al. Mutations in the GNAI3 gene cause auriculo-condylar syndrome. Am J Hum Genet. 2013 Jan 10;92(1):86-90. doi: 10.1016/j.ajhg.2012.11.011. PubMed PMID: 23261302; PubMed Central PMCID: PMC3542464.
- A catalogue of G protein-coupled receptors and Cyclic Nucleotide-binding Proteins (GPCRDB). Available from: https://gpcrdb.org. Accessed on November 22, 2021.
- Auriculocondylar syndrome. GARD. Genetic and Rare Diseases Information Center. Available from: https://rarediseases.info.nih.gov/conditions/7319/auriculocondylar-syndrome. Accessed on November 22, 2021.
- Amiel J, Atsidaftos E, Goulet M, et al. Heterozygous mutations in the gene encoding the G protein subunit G alpha i3 cause the auriculocondylar syndrome. Am J Hum Genet. 2013 Jan 10;92(1):160-6. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 20. PubMed PMID: 23261301; PubMed Central PMCID: PMC3542426.
- OMIM. Online Mendelian Inheritance in Man. Available from: https://www.omim.org. Accessed on November 22, 2021.
- Genetic Testing Registry. GNAI3. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/514359/overview/. Accessed on November 22, 2021.
- Additional references and scientific articles on GNAI3 gene and related subunits and proteins can be found in the following databases: PubMed, OMIM, GPCRDB, and the Genetic Testing Registry.
- For other genetic tests and resources related to auriculo-condylar syndrome and similar conditions, please refer to the Genetic Testing Registry and consult with a healthcare professional.