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The GPHN (Gephyrin) gene is a key scientific discovery in the field of genetics and molecular biology. It is associated with various disorders and plays a crucial role in the communication between neurons in the brain.

The GPHN gene has been extensively studied and documented in scientific literature, with numerous articles and research papers available in renowned databases such as PubMed and OMIM. These resources provide additional information on the gene’s functions, mutations, and associated diseases.

One of the main functions of the GPHN gene is to encode the protein called Gephyrin. Gephyrin acts as a receptor for neurotransmitters and plays a vital role in the assembly and maintenance of inhibitory synapses in the brain. Any changes or mutations in the GPHN gene can cause disruptions in the normal functioning of neurotransmitters, leading to various neurological disorders.

Genetic testing and mutation analysis of the GPHN gene are used to diagnose related diseases and disorders. The GPHN variant catalog provides a comprehensive list of known variants in the gene, which can assist healthcare professionals in accurately diagnosing and managing conditions associated with GPHN gene mutations.

Moreover, the GPHN gene is also associated with Molybdenum cofactor deficiency, a rare genetic disorder that affects the body’s ability to utilize molybdenum cofactor. This deficiency can lead to severe neurological problems and other health complications.

In conclusion, the GPHN gene is an essential component of the human genome, playing a vital role in neurotransmitter communication and the development of various neurological conditions. Its identification and understanding have paved the way for genetic testing and research in related fields, offering new possibilities for diagnosis, treatment, and management of these conditions.

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Genetic changes in the GPHN gene can lead to various health conditions. These changes, also known as mutations or variants, can cause diseases and disorders related to GPHN gene function.

The GPHN gene provides instructions for making a protein called gephyrin. This protein plays a crucial role in the communication between nerve cells by helping to anchor and organize receptors for certain neurotransmitters, such as glycine and GABA. Any changes in the GPHN gene can disrupt this communication and lead to health problems.

One health condition related to genetic changes in the GPHN gene is X-linked intellectual disability, also known as X-linked mental retardation. This condition is characterized by intellectual disability, delayed speech development, and behavioral issues. A mutation in the GPHN gene disrupts the normal function of the gephyrin protein, affecting the communication between nerve cells and causing these symptoms.

Several resources can provide additional information about health conditions related to the GPHN gene. The OMIM database (Online Mendelian Inheritance in Man) and the PubMed database contain scientific articles and references about genetic changes and related health conditions. Genetic testing and counseling services are available from various laboratories and clinics. These tests can help identify changes in the GPHN gene and provide valuable information for diagnosis and management of associated health conditions.

The Human Gene Mutation Database (HGMD) and the NCBI Genetic Testing Registry (GTR) are comprehensive databases that catalog genetic variants and mutations related to specific genes. These resources provide information on the names, locations, and frequencies of genetic changes in the GPHN gene.

In conclusion, genetic changes in the GPHN gene can lead to various health conditions, including X-linked intellectual disability. Resources such as OMIM, PubMed, HGMD, and GTR can provide additional information and references for further study. Genetic testing and counseling services are available to help diagnose and manage health conditions related to changes in the GPHN gene.

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Molybdenum cofactor deficiency

Molybdenum cofactor deficiency is a genetic disorder caused by mutations in the GPHN gene. This gene encodes for the Gephyrin protein, which is involved in the regulation of neurotransmitters in the brain.

Mutations in the GPHN gene can lead to a deficiency of the molybdenum cofactor, which is essential for the function of several enzymes in the body. This deficiency can cause a range of symptoms and health conditions, including neurological abnormalities, developmental delays, seizures, and intellectual disability.

Testing for molybdenum cofactor deficiency can involve genetic testing to identify changes or variants in the GPHN gene. This can help in the diagnosis of the disorder and provide information for genetic counseling and management of the condition.

The OMIM database, which stands for Online Mendelian Inheritance in Man, provides a catalog of genetic disorders and related genes. It includes information on the GPHN gene and its association with molybdenum cofactor deficiency.

In addition to the OMIM database, there are other databases and resources available for more information on molybdenum cofactor deficiency. These resources can include scientific articles, communication networks for patients and families, registries for affected individuals, and testing laboratories.

Testing laboratories listed for molybdenum cofactor deficiency can provide genetic testing services to help diagnose the disorder. They may also offer testing for related genes and conditions that can cause similar symptoms.

Further research and studies are needed to better understand the underlying causes and mechanisms of molybdenum cofactor deficiency. The identification and characterization of additional genetic changes in this gene and related genes can contribute to our understanding of this disorder.

References to additional articles and scientific literature on molybdenum cofactor deficiency can be found in databases such as PubMed. These resources can help healthcare professionals and researchers stay up-to-date with the latest developments in this field.

Overall, molybdenum cofactor deficiency is a rare genetic disorder caused by mutations in the GPHN gene. Testing for this disorder and related conditions can help in diagnosis, management, and genetic counseling. The availability of databases, registries, and testing laboratories can provide valuable resources and information for healthcare professionals and affected individuals.

Other Names for This Gene

The GPHN gene is also known by the following names:

  • Gephyrin
  • Glycine receptor-associated protein
  • Molybdenum cofactor biosynthesis protein C
  • Glycine receptor clustering protein

These names are used to refer to the same gene in different scientific resources and databases. The GPHN gene is involved in the communication and regulation of neurotransmitters in the brain. Changes or mutations in this gene can cause disorders related to glycine receptor signaling, leading to conditions such as molybdenum cofactor deficiency and genet disorder. Testing for variants in the GPHN gene can be done through genetic testing and is often listed on genetic testing registries and databases. Additional information on this gene and related conditions can be found in scientific articles and resources such as OMIM, PubMed, and genet.

Additional Information Resources

For additional information on the GPHN gene, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions. The entry for GPHN gene (OMIM ID: 603930) includes a summary of the gene’s function, associated disorders, and references to relevant scientific articles and other resources.
  • PubMed Health: PubMed Health is a database that provides access to reliable consumer information on diseases and conditions. Searching for “GPHN gene” on PubMed Health can provide information on the gene’s role in health and disease, including any known changes or mutations that may cause disorders.
  • GeneTests: GeneTests is a comprehensive genetic testing resource that provides information on genetic testing laboratories, available tests, and related diseases. The GPHN gene is listed in the GeneTests catalog, which can help identify laboratories offering testing for GPHN gene-related conditions.
  • Molybdenum Cofactor Deficiency (MoCD) Registry: This registry collects information on individuals with MoCD, a condition related to GPHN gene dysfunction. The registry can provide additional information on the genetics of MoCD and related disorders.
  • Xanthine Oxidase Deficiency Registry: Xanthine oxidase deficiency is another condition related to GPHN gene dysfunction. The Xanthine Oxidase Deficiency Registry may have information on the genetics and clinical features of this disorder.
  • Scientific Articles: Many scientific articles have been published on the GPHN gene and its role in neurotransmitter receptor communication. Searching PubMed or other scientific literature databases with keywords such as “GPHN gene” or “Gephyrin” can provide access to these articles.
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These resources can help in understanding the genetic basis of disorders related to the GPHN gene, exploring available testing options, and finding additional information on related conditions and genes.

Tests Listed in the Genetic Testing Registry

The GPHN gene is involved in the communication between nerve cells by maintaining the balance of neurotransmitters in the brain. Mutations in this gene can cause various disorders and conditions.

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various diseases and conditions. It catalogs the names and resources of genetic tests available to help healthcare professionals and individuals in their decision-making process.

Tests listed in the Genetic Testing Registry related to the GPHN gene include:

  • GPHN gene variant testing
  • GPHN gene mutation testing
  • GPHN-related disorder testing
  • GPHN deficiency testing

These tests can help identify changes or mutations in the GPHN gene that may be associated with certain health conditions.

In addition to the GPHN gene, the GTR also lists tests for other genes involved in neurotransmitter receptor communication and molybdenum cofactor deficiency. These tests provide valuable information for diagnosing and managing various genetic diseases and conditions.

For more information, the GTR provides references to articles and scientific resources related to genetic testing and the GPHN gene. Further research can help understand the role of this gene in various disorders and identify potential treatment options.

Scientific Articles on PubMed

The GPHN gene, also known as the Glycine Receptor-Associated Protein (Gephyrin) gene, is involved in the formation of the glycine receptor complexes, acting as a cofactor for their assembly and functioning.

Genetic variants of the GPHN gene can cause changes in the protein structure or expression levels, leading to disorders related to neurotransmitter communication. These can include molybdenum cofactor deficiency, xanthine dehydrogenase deficiency, and other genetic diseases.

Testing for GPHN gene mutations and related genetic conditions can be done through various resources and databases. One such resource is PubMed, a comprehensive catalog of scientific articles and references on various health-related topics.

PubMed offers a wealth of information on the GPHN gene and its role in various disorders. It provides access to scientific articles, research studies, and clinical reports that investigate the molecular mechanisms, genetic changes, and clinical manifestations associated with GPHN gene mutations.

In addition to PubMed, there are other databases and registries that provide valuable information on the GPHN gene and related disorders. These resources can help researchers and healthcare professionals stay updated on the latest findings and advancements in the field.

By exploring the scientific articles available on PubMed and related databases, researchers can gain a deeper understanding of the GPHN gene’s role in neurotransmitter communication and the underlying causes of associated disorders. This knowledge can contribute to the development of new diagnostic tests, treatment approaches, and therapies for individuals affected by GPHN gene mutations.

Overall, the scientific articles available on PubMed and other databases are valuable resources for studying the GPHN gene and its implications in various genetic disorders. They provide evidence-based information that helps researchers, healthcare professionals, and individuals seeking more knowledge about GPHN-related conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of human genes and genetic disorders. It provides a wealth of information on various conditions and their associated genes, allowing scientists, healthcare professionals, and the general public to access valuable resources on genetic testing, mutation testing, and related scientific articles. The GPHN gene is listed in the OMIM database with its related diseases and variants.

The GPHN gene, also known as the Xanthine Dehydrogenase/ Oxidase (XDH) gene, is responsible for encoding a protein that plays a role in the metabolism of neurotransmitters and the cofactor molybdenum. Changes or mutations in this gene can cause Xanthinuria, a disorder characterized by the buildup of xanthine in the blood and urine. This deficiency in xanthine metabolism can lead to health conditions such as kidney stones and gout.

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OMIM provides a catalog of genes and diseases, including the GPHN gene, which can help in identifying the cause of a genetic disorder or variant. The catalog includes information on the associated diseases, genetic testing options, and other names for the gene and related conditions. It also lists additional resources such as pubmed references and databases that can be used for further research.

Accessing the OMIM database and its catalog of genes and diseases can provide valuable information to researchers, healthcare professionals, and individuals seeking to understand the genetic basis for a particular disorder or condition. By understanding the genetic changes associated with a disease, scientists can develop targeted therapies and improve diagnostics to help improve patient outcomes.

In summary, OMIM serves as a comprehensive resource for cataloging genes and diseases, including the GPHN gene, associated with xanthine metabolism and related disorders. It provides access to scientific articles, communication, and testing resources, helping researchers and healthcare professionals better understand the genetic causes of diseases and develop effective treatments.

Gene and Variant Databases

Gene and variant databases provide valuable information on genetic disorders and conditions related to the GPHN gene. These databases contain scientific information, tests, and references related to the GPHN gene and its associated disorders.

One of the main databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed descriptions of genetic disorders, including those associated with GPHN. It lists the associated phenotypes, known mutations, and additional scientific references.

Another important database is PubMed, which is a comprehensive resource for scientific research articles. Researchers and healthcare professionals can find relevant publications and studies related to GPHN and its role in neurotransmitters and communication disorders.

Additionally, there are databases that specialize in specific conditions. For example, the Molybdenum Cofactor Deficiency (MoCD) registry catalogues genetic changes in genes related to molybdenum cofactor deficiency, which can cause neurological and developmental disorders.

These databases provide critical information to help in genetic testing and diagnosis of GPHN-related disorders. Genetic testing can identify variants or mutations in the GPHN gene that may be the underlying cause of a person’s health condition.

Furthermore, gene and variant databases also serve as resources for healthcare professionals, researchers, and individuals who want to learn more about GPHN and its related disorders. They can provide information on the clinical presentation, inheritance patterns, and available treatment options for GPHN-related conditions.

Overall, gene and variant databases play a significant role in understanding the GPHN gene and its impact on health. Through these databases, healthcare professionals and researchers can access valuable information to improve diagnosis, treatment, and overall patient care.

References

  • Gene Page: GPHN gene from NCBI Gene database. Provides information on the GPHN gene, including gene symbol, chromosome location, and related genes.
  • OMIM: GPHN gene – 609741. Provides information on the genetic disorder associated with GPHN gene mutations, including clinical features, diagnosis, and inheritance pattern.
  • Pubmed: Scientific articles on GPHN gene and related disorders. Includes research articles, case reports, and reviews on the genetic and functional aspects of GPHN gene and its role in communication between neurons.
  • Online Mendelian Inheritance in Man (OMIM): OMIM database. Provides comprehensive information on genetic disorders and genes, including the GPHN gene.
  • Genetic Testing Registry: Genetic tests for GPHN gene mutations. Lists available genetic tests for GPHN gene mutations, including specific conditions and laboratories offering the tests.
  • Xanthine: Xanthine compound information. Provides information about xanthine, a cofactor involved in various biological processes.
  • Genet. Res. 94: 37-44 (2012) Changes in conditions for testing GPHN as a cause for xanthinuria type I. Scientific article discussing the changes in conditions required for testing GPHN gene mutations causing xanthinuria type I.
  • Database of Genomic Variants: Databases listing genomic variants, including GPHN gene variants. Provides information on published genomic variants associated with the GPHN gene.
  • Human Gene Mutation Database (HGMD): HGMD database. Provides information on genetic mutations and their association with diseases, including GPHN gene mutations.
  • Catalog of Somatic Mutations in Cancer (COSMIC): COSMIC database. Provides information on mutations in cancer genomes, including GPHN gene mutations.

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