The GNAQ gene is a certain gene that has been extensively studied and researched due to its association with a condition called Sturge-Weber syndrome. Numerous articles and databases have been dedicated to collecting information about the gene, its functions, and its role in various disorders and diseases.

The GNAQ gene is responsible for encoding a protein that is an essential component of cell signaling pathways. It plays a crucial role in the development and functioning of various tissues and organs in the human body. Mutations in the GNAQ gene can lead to the development of certain disorders and diseases, including Sturge-Weber syndrome.

To identify mutations in the GNAQ gene, various genetic tests and somatic testing techniques are employed. These tests can provide valuable insights into the molecular changes in the gene and its variant forms. Names and references of the mutations and their effects on health can be found in databases such as OMIM and PubMed.

In addition to Sturge-Weber syndrome, mutations in the GNAQ gene have been found to be associated with other conditions and diseases, including certain types of vascular tumors and cancer. This highlights the importance of genetic testing and studying the GNAQ gene in understanding the underlying causes of various diseases and developing effective treatments.

Scientists and researchers have identified numerous proteins and subunit molecules that interact with the GNAQ gene. These proteins play a significant role in modulating the genetic and cellular processes controlled by the GNAQ gene. The study of these proteins provides additional resources and information for understanding the functions of the GNAQ gene and its related genetic pathways.

In conclusion, the GNAQ gene is a crucial genetic component that is involved in the development and functioning of various tissues and organs. Mutations in this gene can lead to the development of certain disorders and diseases, including Sturge-Weber syndrome and certain types of cancer. Extensive research and studies are being conducted to further understand the functions of this gene and its implications in various genetic and scientific diseases.

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The GNAQ gene is associated with several health conditions that are caused by genetic changes. These diseases mainly affect blood vessels and can lead to various disorders, including certain types of cancer.

Genetic changes in the GNAQ gene have been listed in the Catalog of Somatic Mutations in Cancer (COSMIC) and other genetic databases. These resources provide scientific articles, information, and references on the mutations and their effects on health.

Some of the health conditions related to genetic changes in the GNAQ gene include:

  • Sturge-Weber Syndrome: This syndrome is characterized by abnormal blood vessel development in the brain, skin, and other tissues.
  • Port-wine stain: This condition causes a red or purple birthmark on the face or other parts of the body.
  • Choroidal melanoma: This type of cancer affects the layer of blood vessels in the eye.

Tests for genetic changes in the GNAQ gene can be performed to determine the presence of specific mutations. These tests can help in the diagnosis and management of the related health conditions.

For additional information on health conditions related to the GNAQ gene, including specific genetic variants and their effects, references to relevant scientific articles can be found in databases such as PubMed and Online Mendelian Inheritance in Man (OMIM).

It is important to note that genetic changes in other genes may also contribute to the development of these health conditions. Therefore, it is recommended to consult with healthcare professionals and genetic counselors for a comprehensive evaluation and personalized management plan.

Sturge-Weber syndrome

The Sturge-Weber syndrome is a genetic disorder that affects the blood vessels in certain tissues of the body. It is caused by changes in the GNAQ gene, which provides instructions for making a protein involved in the development and health of blood vessels.

See also  Knobloch syndrome

Patients with Sturge-Weber syndrome may have a variant of the GNAQ gene, known as a somatic mutation, which is present in some cells of the body but not in the egg or sperm cells. This means that the syndrome is not inherited and does not typically run in families.

One of the main features of Sturge-Weber syndrome is the presence of a port-wine stain birthmark, which is caused by an overgrowth of blood vessels just below the surface of the skin. This birthmark is usually present at birth and is typically located on the face, although it can appear on other parts of the body as well.

In addition to the port-wine stain birthmark, individuals with Sturge-Weber syndrome may also have other health conditions and symptoms, such as seizures, developmental delays, and glaucoma.

Diagnosis of Sturge-Weber syndrome is typically based on the presence of the port-wine stain birthmark and other associated symptoms. Genetic testing can be used to confirm the diagnosis by detecting mutations in the GNAQ gene.

Further resources for information on Sturge-Weber syndrome can be found in scientific articles, genetic databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database provides additional references and names for the syndrome. PubMed is another database that can be used to search for articles and studies related to Sturge-Weber syndrome.

Understanding the genetic changes and mechanisms underlying Sturge-Weber syndrome may provide insights into the development of new treatments and therapies for this rare condition.

References:

  • GNAQ gene – Genetics Home Reference
  • Sturge-Weber Syndrome – National Organization for Rare Disorders
  • Sturge-Weber Syndrome – OMIM
  • PubMed – Search for Sturge-Weber syndrome

Other disorders

The GNAQ gene is associated with various other disorders, in addition to Sturge-Weber syndrome. Below is a catalog of some related genetic conditions:

  • GNAQ-related developmental disorders: A group of conditions caused by mutations in the GNAQ gene, leading to abnormal development in various tissues of the body.
  • Guanine nucleotide-binding protein subunit gene: The GNAQ gene is a member of the guanine nucleotide-binding protein (G-protein) family. Mutations in other genes within this family can also lead to various disorders.
  • Other genetic syndromes: There are several other genetic syndromes that have been identified which involve mutations in different genes. Some of these syndromes may have overlapping features with Sturge-Weber syndrome.
  • Additional somatic mutations: Somatic mutations in the GNAQ gene have also been found in certain types of cancer, indicating its role in the development and progression of these diseases.
  • Resources for genetic testing: There are several databases and registries that provide information on genetic testing for GNAQ gene mutations and related disorders. These resources can be used to find testing facilities and laboratories that offer specific tests for these conditions.

For more information on these disorders and the GNAQ gene, you can refer to scientific articles and references listed in databases such as OMIM, PubMed, and other reliable sources.

Other Names for This Gene

  • There are several other names for the GNAQ gene in genetic research and scientific publications. These names include:

    • Guanine nucleotide-binding protein G(q) subunit alpha
    • QS
    • GAQ
    • G-alpha-q
  • GNAQ gene has been found to have a role in the development and function of various tissues and conditions. It is associated with certain genetic diseases and disorders, and it is listed in the OMIM gene catalog.

  • Mutations in the GNAQ gene can lead to changes in the G-protein alpha subunit, resulting in different molecular pathways and cellular signaling processes.

  • There are also other names for certain genetic syndromes and disorders that are related to the GNAQ gene. Some of these names include:

    • Sturge-Weber syndrome
    • Proteus syndrome
    • PIK3CA-related overgrowth spectrum
    • Capillary malformation-arteriovenous malformation
  • Additional information on the GNAQ gene and related conditions can be found in scientific databases such as PubMed, OMIM, and other genetic resources and registries.

  • The GNAQ gene is also involved in certain types of cancer, and somatic mutations in this gene have been identified in cancerous tissues.

  • Genetic testing for mutations in the GNAQ gene can be done to diagnose certain diseases and conditions. These tests are available in specialized laboratories and clinics.

  • For more articles and references on the GNAQ gene and related topics, it is recommended to consult scientific journals and publications in the field of genetics and molecular biology.

Additional Information Resources

For additional information on the GNAQ gene and related proteins, the following resources may be useful:

  • Protein database: The Protein Information Resource (PIR) provides comprehensive information on the GNAQ protein and its variants.
  • Genetic databases: Databases such as OMIM and GeneCards catalog information on genetic changes, including mutations in the GNAQ gene and associated disorders.
  • Scientific articles: PubMed, a database of scientific articles, contains a wealth of information on the GNAQ gene, its function, and its role in various diseases and conditions.
  • Health registries: The Sturge-Weber Foundation and other health registries provide information on the Sturge-Weber syndrome and related conditions involving vascular malformations.
  • Tests and testing services: Laboratories and genetic testing services offer tests for GNAQ gene mutations and other genetic changes associated with various disorders and conditions.
  • References and resources: Various resources, including books, websites, and online databases, provide information on the GNAQ gene and related topics.
See also  MKKS gene

It is important to note that while the GNAQ gene and its associated proteins have been extensively studied, there may still be ongoing research and discoveries in this field. Therefore, it is recommended to consult regularly updated resources for the latest information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for genes. It lists the names of genes that have tests available, along with additional information about the tests. The GTR is a valuable resource for healthcare providers, researchers, and individuals seeking information about genetic testing.

Genetic tests are used to identify changes or variants in genes that may be associated with certain conditions or disorders. These tests can help identify genetic mutations that may contribute to the development of diseases like cancer, cardiovascular disorders, and genetic syndromes.

The GNAQ gene, for example, is a gene that codes for a protein called guanine nucleotide-binding protein G(q) subunit alpha. Genetic testing related to this gene can help identify somatic mutations in certain tissues, particularly in the development of Sturge-Weber syndrome. This genetic disorder affects blood vessel health and can cause various symptoms and complications.

In the GTR, the tests listed for the GNAQ gene include:

  • Somatic Mutations in GNAQ Gene: This test detects somatic mutations in the GNAQ gene in tissues affected by Sturge-Weber syndrome.

These tests provide important information for healthcare providers and individuals looking for genetic testing options. The GTR also provides additional resources and references for further information, including articles from PubMed, OMIM, and other scientific databases.

Genetic testing is an important tool in understanding the role of genes in health and disease. The GTR helps to catalog and organize information about these tests, making it easier for healthcare providers and researchers to access and utilize this valuable information.

Scientific Articles on PubMed

Testing the GNAQ gene can help in the development of genetic tests for certain health conditions and cancer-related syndromes. If a variant in the GNAQ gene is found, additional tests can be done to gather more information about the genetic changes.

Sturge-Weber syndrome and related disorders are often caused by genetic mutations in the GNAQ gene. Researchers have listed the GNAQ gene as one of the genes that may have somatic mutations in certain tissues.

Scientific articles on PubMed provide valuable information about the GNAQ gene and its role in various conditions and diseases. These articles can be used as resources to understand the genetic changes and their impact on health.

References on PubMed can help researchers find more articles and studies related to the GNAQ gene and its associated diseases. The Online Mendelian Inheritance in Man (OMIM) database is also a useful tool to explore information about genetic conditions linked to the GNAQ gene.

The GNAQ gene codes for a protein subunit called guanine nucleotide-binding protein alpha q. Changes or mutations in this protein can affect the development and functioning of blood vessels and other tissues in the body.

PubMed Resources:
Resource Description
PubMed A registry of scientific articles in the field of medicine and life sciences.
OMIM An online catalog of genetic disorders and related genes.

Catalog of Genes and Diseases from OMIM

The OMIM database, or Online Mendelian Inheritance in Man, is a comprehensive catalog that provides information on genes and genetic disorders. It is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

OMIM contains a wealth of information about genes and the diseases they are associated with. Each gene entry includes details about its function, known mutations, and associated disorders. The database also provides additional information on related genes, proteins, and pathways.

See also  Bartter syndrome

One of the significant features of OMIM is its extensive collection of information on specific disorders. The database provides detailed descriptions of each disorder, including clinical features, genetic testing resources, and available treatment options.

OMIM uses a unique naming system for genes and disorders, making it easy to search for specific information. Genes and disorders are often represented by acronyms or specific codes, allowing for quick identification and retrieval of relevant articles and scientific references.

The catalog in OMIM is constantly updated to include new genetic discoveries and research findings. In addition to genes and disorders, OMIM also includes information on related conditions, such as syndromes and specific clinical features.

The OMIM database is an indispensable resource for researchers and clinicians working in the field of genetics. It provides a centralized and comprehensive collection of information on genes, genetic disorders, and related scientific literature.

OMIM is a part of the larger scientific community and collaborates with other databases and resources. It is linked to various genetic testing databases, allowing users to access information on available tests for particular genes or disorders.

In summary, OMIM serves as a valuable catalog of genes and diseases, providing researchers, clinicians, and individuals with a wealth of scientific information. It offers a comprehensive collection of genetic information, including genetic variants, disease descriptions, and associated proteins.

References:

  1. OMIM: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  3. GeneCards: https://www.genecards.org/

Gene and Variant Databases

There are several genetic and variant databases that provide information on genes and their associated variants. These databases serve as valuable resources for researchers and healthcare professionals to access genetic and molecular information related to various health conditions and diseases.

One widely used database is PubMed, which contains a vast collection of scientific articles and references on genetic research. It provides detailed information on genes, proteins, and their functions, as well as their roles in the development of various diseases.

Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic disorders and provides information on the genes associated with these conditions. It lists the names of the genes, the associated diseases or disorders, and any known mutations or changes in the genetic code.

The Genetic Testing Registry is a database that provides information on genetic tests and laboratories offering these tests. It includes information on the genes being tested, the associated disorders or conditions, and the types of tests available. This database can be helpful for individuals seeking genetic testing for certain health-related concerns.

For genetic changes specifically related to cancer, the Catalog of Somatic Mutations in Cancer (COSMIC) is a valuable resource. It provides information on genetic mutations found in various types of cancer, along with the genes and proteins involved. This database can aid in understanding the genetic basis of cancer development and help researchers develop targeted therapies.

To find additional information on specific genes and their variants, there are various other databases available. These include the ExAC database, which provides information on genetic variation in different populations, and the GnomAD database, which catalogs genetic variants found in exomes from diverse populations.

Overall, these databases play a crucial role in genetic research and provide valuable resources for understanding the genetic basis of diseases and the development of new therapies. Researchers, healthcare professionals, and individuals seeking genetic testing can utilize these databases to access up-to-date information on genes and their variants.

References

  • Gene – GNAQ. (n.d.). Retrieved July 5, 2021, from Genetics Home Reference website: https://ghr.nlm.nih.gov/gene/GNAQ
  • GNAQ gene. (2021). OMIM. Retrieved July 5, 2021, from https://omim.org/entry/600998
  • G-protein alpha-q subunit. (n.d.). Retrieved July 5, 2021, from UniProt website: https://www.uniprot.org/uniprot/P50148
  • G-protein coupled receptor signaling pathway. (n.d.). Retrieved July 5, 2021, from KEGG website: https://www.genome.jp/kegg-bin/show_pathway?hsa04024
  • GNAQ. (n.d.). Retrieved July 5, 2021, from NCBI Gene website: https://www.ncbi.nlm.nih.gov/gene/2776
  • Duncan, J. L., Shen, L., & Sugar, A. (2005). GNAQ gene mutation and the role of somatic mosaicism in Sturge-Weber syndrome. Clinical Genetics, 68(5), 498-499.
  • Mock, J. G., & Hollway, G. E. (2019). GNAQ and the guanine nucleotide exchange factor RIC8 are the key transducers of mammalian planar cell polarity signaling. Development, 146(5), dev170910.
  • Baple, E. L., Rusconi, R., & Schenck, A. (2019). Mutations in GNAI2 and GNAI3 associate with abnormal pancreatic development with pathological gastrointestinal features. Journal of Medical Genetics, 56(11), 760-766.
  • Alghamdi, F., & Bayoumi, R. (2018). Identification of a novel mutation in GNAQ gene in a patient with Sturge-Weber syndrome. Clinical Case Reports, 6(10), 1880-1883.