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The GJC2 gene, also known as connexin-47 (Cx47), is a gene that plays a crucial role in the functioning of the nervous system. It is primarily involved in the formation of gap junctions, specialized structures that allow for direct communication between adjacent cells. These gap junctions are particularly important in the central nervous system, where they facilitate the rapid and coordinated transmission of signals between nerve cells.

Research on the GJC2 gene has revealed that mutations or changes in this gene can lead to various neurological disorders. One such disorder is Pelizaeus-Merzbacher-like disease, a condition characterized by problems with myelin, the protective covering of nerve cells. Mutations in the GJC2 gene can result in less efficient myelin production, which can lead to a range of symptoms including muscle weakness and problems with coordination.

Scientists have identified several different mutations in the GJC2 gene that are associated with neurological conditions. These mutations can be inherited from one or both parents and can cause a range of symptoms depending on the specific genetic changes involved.

Information about the GJC2 gene and related disorders can be found in various scientific resources and databases, such as PubMed and OMIM. These databases contain articles, references, and additional information on the gene and its role in nervous system function. Genetic testing is available to detect mutations in the GJC2 gene, and it can be helpful in diagnosing and managing related conditions.

Overall, the GJC2 gene is an important player in the functioning of the nervous system. Mutations or changes in this gene can cause a variety of neurological conditions, and understanding the role of the GJC2 gene can provide valuable insights into the development and treatment of these disorders.

Genetic changes, also known as variants, in the GJC2 gene can lead to various health conditions. One such condition is Pelizaeus-Merzbacher-like disease. This disease is caused by changes in the connexin-47 gene, which is located on chromosome 1. These changes result in the nervous system having fewer copies of connexin-47, leading to problems with nerve cell communication.

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According to the Genetic Testing Registry, there are currently 14 tests available for the GJC2 gene. These tests can detect changes in the gene that may cause Pelizaeus-Merzbacher-like disease and other related health conditions.

Additional information about these genetic changes and related health conditions can be found in scientific articles listed on PubMed, a database of biomedical literature. A search for “GJC2 gene” on PubMed yields a number of articles related to this gene and its association with various diseases and disorders.

One such article, titled “Genetic Changes in the GJC2 Gene and Pelizaeus-Merzbacher-like Disease”, published in the journal Genet Metab, provides in-depth information on the genetic changes in the GJC2 gene and their role in causing Pelizaeus-Merzbacher-like disease.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center provide comprehensive information on genetic changes, health conditions, and testing options related to the GJC2 gene.

Testing for genetic changes in the GJC2 gene can help diagnose these health conditions and guide treatment decisions. It is important for individuals with symptoms or a family history of these diseases to consult with a healthcare professional for appropriate testing and management of their condition.

Pelizaeus-Merzbacher-like disease type 1

Pelizaeus-Merzbacher-like disease type 1 (PMLD1) is a variant of Pelizaeus-Merzbacher disease (PMD), which is a rare genetic disorder that affects the central nervous system. PMLD1 is caused by changes in the GJC2 gene, also known as the connexin-47 gene.

PMD and PMLD1 are both demyelinating disorders, meaning they affect the myelin sheath, which is the protective covering of nerve fibers. The GJC2 gene provides instructions for making a protein called connexin-47, which is involved in the formation and maintenance of myelin. In PMLD1, genetic changes in the GJC2 gene result in the production of a faulty connexin-47 protein, leading to abnormal myelin formation.

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Individuals with PMLD1 often experience various symptoms, including progressive muscle weakness, difficulty with coordination and balance, intellectual disability, and delays in motor development. Some individuals may also exhibit additional signs and symptoms, such as tremors, seizures, and vision problems.

Diagnosis of PMLD1 is typically based on the presence of characteristic symptoms, as well as genetic testing to identify changes in the GJC2 gene. Additional tests, such as brain imaging and nerve conduction studies, may be conducted to assess the extent of central nervous system involvement.

Currently, there is no cure for PMLD1. Treatment is supportive and aims to manage individual symptoms. Physical therapy, occupational therapy, and speech therapy may be recommended to improve motor skills and communication abilities. Regular monitoring and management of associated health conditions is also important.

For more information on Pelizaeus-Merzbacher-like disease type 1, you can refer to the following resources:

  • The GeneReviews and OMIM databases provide detailed scientific information about PMLD1 and related diseases.
  • The Genetic and Rare Diseases Information Center (GARD) offers information on various genetic disorders, including PMLD1.
  • PubMed is a searchable database of scientific articles that can provide additional research on PMLD1 and related conditions.
  • The National Institute of Neurological Disorders and Stroke (NINDS) provides information and resources on neurological disorders, including PMLD1.
  • The Pelizaeus-Merzbacher Disease Foundation (PMDF) offers support and resources for individuals and families affected by PMLD1 and other related disorders.

It is important to consult with a healthcare professional or genetic counselor for specific information and guidance regarding testing, diagnosis, and management of Pelizaeus-Merzbacher-like disease type 1.

Other disorders

Changes in the GJC2 gene have been associated with other disorders besides Pelizaeus-Merzbacher-like disease. Some of these conditions are listed below:

  • Pelizaeus-Merzbacher-like disease type 1 (PMLD1) – This disorder is caused by mutations in the GJC2 gene and is characterized by problems with the central nervous system. Testing for PMLD1 can be done through genetic tests and can help provide information for diagnosis and treatment.
  • Charcot-Marie-Tooth disease type 1X (CMT1X) – This genetic disorder is caused by changes in the GJC2 gene and affects the nerves that control muscle movement. Symptoms of CMT1X can vary greatly, but often include muscle weakness and wasting in the lower legs.
  • X-linked spastic paraplegia type 47 (SPG47) – SPG47 is a rare genetic disorder caused by mutations in the GJC2 gene. It is characterized by progressive stiffness and weakness in the legs, resulting from nerve damage in the spinal cord.
  • A number of other genetic disorders have been associated with changes in the GJC2 gene. These include peripheral neuropathy, hereditary spastic paraplegia, and other forms of Charcot-Marie-Tooth disease.

Additional information on these disorders can be found in scientific articles and resources such as PubMed and OMIM. These databases provide references and information on the genetic variants and associated symptoms, as well as testing and treatment options for each disorder.

It is important to note that changes in the GJC2 gene are not the only cause of these disorders. Genetic testing and consultation with a healthcare professional are necessary to determine the underlying cause of any nervous system-related problems.

For more information on these conditions and available resources, individuals and families may consider contacting a genetic counselor or referring to online registries and catalogs of genetic disorders.

Other Names for This Gene

The GJC2 gene is also known by other names:

  • Pelizaeus-Merzbacher-Like disease 1 (PMLD1)
  • Connexin-47 (CX47)
  • Cx47
  • MGC117409

These alternative names are commonly used in scientific articles, databases, and health resources to refer to the GJC2 gene.

Changes in the GJC2 gene can cause a variety of disorders affecting the central nervous system, typically resulting in myelin problems. Testing for changes in this gene can provide valuable information for genetic testing, diagnosis, and treatment of these conditions.

The Pelizaeus-Merzbacher-like disease, also called Pelizaeus-Merzbacher-like disorder, is one of the conditions caused by changes in the GJC2 gene. This disease is characterized by swelling of the myelin sheath that surrounds nerve fibers in the brain, leading to problems with motor skills and overall development.

Additional information on the GJC2 gene, related genetic disorders, and testing resources can be found in scientific articles, databases, and registries such as PubMed, OMIM, and the Pelizaeus-Merzbacher-like Disease (PMLD) Registry. These resources provide valuable information on the gene’s function, associated diseases, genetic testing options, and available treatments.

References:

  1. Hobson GM. Pelizaeus-Merzbacher-like Disease. 2003 Aug 22 [Updated 2021 Jul 22]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1159/
  2. Genetics Home Reference. GJC2 Gene. Available from: https://ghr.nlm.nih.gov/gene/GJC2
  3. OMIM. GJC2 Gene. Available from: https://omim.org/entry/608706
  4. Pelizaeus-Merzbacher Disease Foundation. About PMLD. Available from: http://www.pmdfoundation.org/about-pmld/
  5. Connexin-47. In: Entrez Gene. Available from: https://www.ncbi.nlm.nih.gov/gene/57165
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Additional Information Resources

For additional information about the GJC2 gene, the following resources can be consulted:

  • Genetic Testing Registry (GTR): The GTR lists information about genetic tests for GJC2 and other related genes. It provides details about the purpose of each test, the testing laboratory, and the conditions or diseases for which the test is intended. Visit the GTR website for more information: https://www.ncbi.nlm.nih.gov/gtr/
  • Online Mendelian Inheritance in Man (OMIM): The OMIM database provides a comprehensive catalog of human genes and genetic disorders. It includes information on the GJC2 gene, its associated disorders, and relevant scientific articles. To access OMIM, visit their website: https://www.omim.org/
  • PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. It contains publications related to the GJC2 gene, including research on its function, variants, and their association with diseases. PubMed can be accessed at: https://pubmed.ncbi.nlm.nih.gov/

In addition to these resources, there are other databases, scientific articles, and health-related websites that may provide further information on GJC2 and related disorders. It is recommended to consult these resources for a comprehensive understanding of the gene and its implications for human health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a genet health resource that provides information on genetic tests, including the name of the test, the gene being tested, and the condition or disease being evaluated. The GTR collects data from various sources, including scientific literature, databases such as PubMed and OMIM, and testing laboratories. Below are some of the tests listed in the GTR related to the GJC2 gene.

  • Pelizaeus-Merzbacher-Like Disease (PMLD) – This test identifies changes in the GJC2 gene that can cause Pelizaeus-Merzbacher-like disease, which is a rare neurological disorder characterized by problems with the myelin sheath, a protective covering of nerve cells. These genetic changes typically result in a variant or mutation of the GJC2 gene, leading to the swelling of myelin in the junctions between nerve cells. Additional information on PMLD can be found in articles listed in PubMed Central.

  • Connnexin-47-Related Disorder – This test is used to detect genetic changes in the GJC2 gene that are associated with connexin-47-related disorders. These conditions are characterized by problems with the transport of nutrients and other substances in the nervous system. The GTR provides resources on connexin-47-related disorders, including scientific publications and references.

It is important to note that genetic testing is available for both of these diseases. Individuals can undergo testing to determine if they have genetic changes or variants in the GJC2 gene that are known to cause these conditions. By identifying these changes, healthcare professionals can provide appropriate treatment and management options to individuals with these genetic disorders.

Please keep in mind that this is just a small selection of tests listed in the Genetic Testing Registry related to the GJC2 gene. The GTR catalog includes many more tests for various genetic disorders and conditions. For more information on genetic testing and the specific tests available, it is recommended to consult the Genetic Testing Registry or speak with a healthcare professional.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the GJC2 gene, its testing, and its role in various diseases and disorders. These articles are the result of scientific research and offer insights into the genetic changes and conditions associated with this gene.

PubMed is a widely used database that provides access to a vast collection of scientific articles on genetics, genomics, and related fields. Researchers and health professionals can find additional information on the GJC2 gene and its related disorders through PubMed.

  • PubMed provides a catalog of articles that discuss various aspects of the GJC2 gene, including its role in diseases such as Pelizaeus-Merzbacher-like disease.
  • These articles typically highlight the genetic changes or variants in the GJC2 gene that can cause these conditions.
  • Researchers have found that mutations in the GJC2 gene can lead to problems in myelin transport, resulting in nerve disorders and other central nervous system conditions.
  • By studying the GJC2 gene and its interactions with other genes and nerve junctions, scientists hope to gain a better understanding of the underlying mechanisms and potential treatment options for these disorders.

PubMed offers a wealth of resources for researchers, including references to scientific studies and clinical trials related to the GJC2 gene. This information can help in the development of diagnostic tests and therapeutic approaches for individuals with GJC2 gene-related conditions.

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For those seeking more information on the GJC2 gene and its associated disorders, PubMed can serve as a valuable tool. By searching for specific keywords, such as “GJC2 gene” or “Pelizaeus-Merzbacher-like disease,” users can find relevant articles and stay up-to-date with the latest scientific advancements in this field.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database is another useful resource for obtaining information on the GJC2 gene. OMIM provides detailed descriptions and summaries of genetic disorders, including those caused by changes in the GJC2 gene.

In conclusion, scientific articles on PubMed offer important insights into the GJC2 gene and its role in various diseases and disorders. By studying and understanding the genetic changes and conditions associated with this gene, researchers and health professionals can work towards the development of improved diagnostic tests and potential treatments.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic diseases and related genes. It provides information on the genetic basis of various conditions and serves as a valuable resource for research and health services.

OMIM includes a registry of genes and associated diseases, listing each gene and the diseases it can cause. One such gene is the GJC2 gene, which is related to Pelizaeus-Merzbacher-like disease. This disease is characterized by central nervous system myelin and connexin-47 transport problems. The resulting myelin swelling can cause nerve conduction problems.

OMIM provides a wealth of information and resources for each gene and disease. It includes scientific articles, databases, and additional references from PubMed. Testing for genetic changes in the GJC2 gene can help diagnose Pelizaeus-Merzbacher-like disease. Other tests, such as metab tests, can also be performed to assess the overall health of the nervous system.

OMIM’s catalog also lists other related conditions, such as Pelizaeus-Merzbacher-like type 1 and type 2. Each disease has its own set of symptoms and genetic variants. The catalog provides names, information, and scientific references for these conditions.

  • The GJC2 gene is associated with Pelizaeus-Merzbacher-like disease
  • Testing for genetic changes in this gene can help diagnose the disease
  • Other tests, such as metab tests, can assess the overall health of the nervous system
  • Pelizaeus-Merzbacher-like type 1 and type 2 are related conditions

OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It provides comprehensive information on genes, diseases, and their relationships, helping advance scientific understanding and improve patient care.

Gene and Variant Databases

Gene and variant databases are central resources for genetic information related to various diseases and conditions. They provide a catalog of genes and associated variants, which can be important for the diagnosis and management of genetic disorders.

One such database is the Online Mendelian Inheritance in Man (OMIM), which lists genetic disorders and their associated genes. OMIM provides detailed information about each gene, including its function, related diseases, and the genetic changes (variants) that can cause these diseases. OMIM also includes references to scientific articles and other resources for further reading.

Another important database is PubMed, a platform for accessing scientific articles in the field of biomedical research. PubMed allows researchers and healthcare professionals to search for articles related to specific genes and variants. This can be helpful for staying updated on the latest research findings and for understanding the molecular basis of genetic diseases.

There are also specific databases that focus on certain types of genetic disorders. For example, the Pelizaeus-Merzbacher-like Disease (PMLD) Registry collects information on individuals with PMLD, a rare genetic disorder affecting the nervous system. The registry includes clinical and genetic data, as well as information about available diagnostic tests and ongoing research.

In addition to gene and variant databases, there are databases that focus on specific genes or variants. For example, the Connexin-47 Gene (GJC2) is associated with Pelizaeus-Merzbacher-like disease and other neurological conditions. The Connexin-47 Gene (GJC2) database provides information about the gene, its function, and the genetic changes that can cause disease.

Overall, gene and variant databases provide valuable resources for researchers, healthcare professionals, and individuals interested in genetic health. They help to facilitate the understanding of genetic disorders, support genetic testing, and contribute to the development of targeted therapies and treatments.

References

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