The GNPTG gene is a key player in the development of mucolipidosis III, a rare genetic disorder that affects the metabolism of lipids in cells. Mucolipidosis III, also known as Raas-Rothschild syndrome, causes a range of symptoms including skeletal abnormalities, developmental delays, and intellectual disability. The GNPTG gene provides instructions for making a protein that is involved in the formation of enzyme complexes called GNPTAG. These complexes are responsible for targeting other enzymes to a specific location within cells, where they help break down and recycle certain molecules.

In order to better understand the role of the GNPTG gene and its association with mucolipidosis III, scientists have conducted extensive research. Numerous articles on the subject can be found on scientific databases such as PubMed and OMIM, providing valuable information on the genetic changes and mutations associated with the disease. In addition, there are various genetic testing resources available that allow for the identification of specific genetic variants in the GNPTG gene.

The GNPTG gene is just one of many genes that have been identified as the cause of mucolipidosis III and related genetic conditions. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable resources for finding additional information on these genes and their associated diseases. These databases provide a comprehensive list of genes, genetic mutations, and references to scientific articles related to mucolipidosis III and other related conditions.

Testing for mutations in the GNPTG gene can be performed to confirm a diagnosis of mucolipidosis III. This type of genetic testing is commonly used to evaluate patients who exhibit symptoms consistent with the disease. Genetic testing can help identify changes in the GNPTG gene that may be causing the symptoms and can guide treatment decisions and management strategies for affected individuals.

Genetic changes in the GNPTG gene have been found to be related to various health conditions. These changes can cause mutations in the gene’s subunits, leading to the development of different diseases.

  • Mucolipidosis gamma: Mutations in the GNPTAG gene can result in mucolipidosis gamma, a rare genetic disorder characterized by impaired metabolism of certain substances in the body. This condition can cause developmental delays, skeletal abnormalities, and other health problems.
  • Raas-Rothschild syndrome: Another health condition related to genetic changes in the GNPTG gene is Raas-Rothschild syndrome. This syndrome is characterized by intellectual disability, skeletal abnormalities, and facial dysmorphism.

For additional information on these and other health conditions related to the GNPTG gene, the following resources can be useful:

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  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of human diseases. It includes a catalog of genes, genetic disorders, and their associated phenotypes.
  2. PubMed: This scientific database contains a vast collection of articles related to genetics and health. Searching for the names of genes or specific health conditions can yield relevant research articles.
  3. Gene Databases: Various genetic databases, such as the Human Gene Mutation Database (HGMD), GeneCards, and Ensembl, provide comprehensive information on genes and their associated genetic changes.
  4. Registry of genetic tests: The registry of genetic tests is a free online resource that lists available genetic tests for different diseases. It can help individuals and healthcare professionals find testing options for specific genetic variants.

These resources have valuable information on the genetic changes associated with the GNPTG gene and the health conditions they may cause. Referencing these databases and articles can be helpful for understanding the genetic basis of various diseases and planning appropriate healthcare interventions.

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Mucolipidosis III gamma

Mucolipidosis III gamma is a rare genetic condition that is caused by mutations in the GNPTAG gene. This gene provides instructions for making a protein called GNPTG, which is one of the subunits of the enzyme responsible for moving certain proteins within cells. When the GNPTAG gene is altered, it can lead to a buildup of certain substances within the cells, resulting in the signs and symptoms associated with mucolipidosis III gamma.

Individuals with mucolipidosis III gamma may experience a range of symptoms, including developmental delay, joint stiffness, skeletal abnormalities, and cognitive impairment. The severity and specific features of the condition can vary widely from person to person.

There are resources available for individuals and families affected by mucolipidosis III gamma. Genetic testing can be done to confirm a diagnosis and identify the specific variant of the GNPTAG gene involved. This information can help inform medical management and treatment options.

Additional information on mucolipidosis III gamma can be found in scientific articles and databases. Databases such as OMIM (Online Mendelian Inheritance in Man) provide detailed information on the genetic basis of diseases, including mucolipidosis III gamma. PubMed is a database that contains references to scientific articles on a wide range of topics, including genetic conditions.

The registry and catalog of mutations in the GNPTAG gene can provide further information on the specific changes that have been identified in individuals with mucolipidosis III gamma. These resources may be helpful for healthcare providers and researchers studying the condition.

Support organizations and patient advocacy groups may also have information on mucolipidosis III gamma, including resources for individuals and families, support services, and current research. Connecting with these organizations can help individuals and families affected by mucolipidosis III gamma access the support and information they need.

In conclusion, mucolipidosis III gamma is a rare genetic condition caused by changes in the GNPTAG gene. Resources such as databases, scientific articles, and support organizations can provide valuable information and support for individuals and families affected by this condition.

Other Names for This Gene

  • gamma-N-acetylglucosaminyltransferase subunit gamma (GNPTAG)
  • GNPTG
  • mucolipidosis III gamma (MLIIIG)
  • raas-rothschild syndrome related

The GNPTG gene, also known as gamma-N-acetylglucosaminyltransferase subunit gamma (GNPTAG), has several other names. It is also referred to as mucolipidosis III gamma (MLIIIG) and is related to raas-rothschild syndrome. These names are used to describe the gene and its associated conditions.

Testing for mutations in the GNPTG gene can be done to diagnose mucolipidosis III gamma and raas-rothschild syndrome. Genetic testing can detect changes in the gene that may cause these conditions.

Additional information on the GNPTG gene can be found in scientific articles listed on PubMed or from genetic databases. These resources provide free access to information on genes, diseases, and genetic testing.

References:

  1. GeneReviews: GNPTG-Related Disorders. Retrieved from The Genetic Testing Registry (GTR) website: https://www.ncbi.nlm.nih.gov/gtr/tests/4774/overview/
  2. Gnptg – N-acetylglucosamine-1-phosphate transferase, gamma subunit. Retrieved from GeneCards: The Human Gene Database website: https://www.genecards.org/cgi-bin/carddisp.pl?gene=GNPTG
  3. Mucolipidosis III gamma – GNPTG. Retrieved from Online Mendelian Inheritance in Man (OMIM) website: https://www.omim.org/entry/252605

These references provide more information on the GNPTG gene, including the diseases it is associated with, tests for these diseases, and the genetic changes that can occur.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find information on the GNPTG gene, as well as related diseases and conditions.
  • PubMed: PubMed is a public database of scientific articles related to various fields of research, including genetics. You can search for articles on the GNPTG gene, its variants, and associated diseases.
  • Genetic Testing: Genetic testing can be done to identify changes or mutations in the GNPTG gene. This testing can help diagnose conditions such as mucolipidosis type III.
  • RAAS-Rothschild Registry: The RAAS-Rothschild registry is a database that collects information on genetic diseases, including mucolipidosis type III. It provides resources for patients and families affected by these conditions.
  • Genetic Databases: Various genetic databases contain information on the GNPTG gene, its mutations, and associated conditions. These databases include resources such as the Human Gene Mutation Database (HGMD), ExAC, and gnomAD.
See also  Gordon Holmes syndrome

For additional information on the GNPTG gene and related topics, you can also refer to scientific articles, references, and resources listed in the above-mentioned databases and registries.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a freely available online resource that provides information about genetic tests for a variety of genetic conditions and health-related traits. The GTR compiles data from various sources, including scientific articles, other databases, and resources.

Genetic tests listed in the GTR can help identify changes (mutations) in genes like GNPTAG, which is known to cause mucolipidosis gamma (ML III). ML III is a rare genetic disorder that affects multiple organs and systems in the body.

The GTR provides comprehensive information about the genetic tests available for ML III and other genetic conditions. It includes details on the test name, the gene or genes it targets, the clinical conditions it is used to diagnose, and additional references and resources.

Genetic testing for ML III is important for early diagnosis and management of the condition. The GTR enables healthcare professionals and individuals to access information on the available tests, including variant catalogues and changes in the GNPTAG gene that have been linked to ML III.

In addition to the GTR, there are other resources and databases that provide information on genetic tests. For example, OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the GNPTAG gene and its associated disorders.

PubMed, a widely used scientific literature database, also contains numerous articles related to GNPTAG and ML III. These articles discuss the genetic changes, testing methods, and clinical implications of ML III. Access to these articles is typically free.

It is essential for healthcare professionals and individuals to stay informed about the available genetic tests and resources. The GTR, along with other databases and scientific literature, provides valuable information on testing options, gene-related conditions, and the latest research in the field.

Scientific Articles on PubMed

Variant GNPTG gene changes can cause a genetic disorder known as mucolipidosis type III (MLIII). This gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man), which provides information on genetic diseases and gene names. The GNPTG gene is one of the subunits of the GNPTAG enzyme, which plays a role in the health and functioning of lysosomes.

Scientific articles on PubMed have made significant contributions to the understanding of this gene and its related diseases. PubMed is a free resource that provides a comprehensive catalog of articles in the field of medicine and genetics. These articles have identified and studied mutations and variants in the GNPTG gene and their impact on various conditions. They have also provided additional information on the genetic testing and genetic counseling options available for individuals with GNPTG gene-related diseases.

The registry of GNPTAG-related disorders, maintained by the Raas-Rothschild Foundation, is a valuable source of information on these conditions. The registry includes information on the genetic variants and mutations found in the GNPTG gene and their clinical significance. It also provides access to resources and references for further research in this area.

Studies published in scientific journals and indexed in PubMed have shed light on the role of the GNPTG gene in mucolipidosis type III and other related diseases. These articles have highlighted the importance of genetic testing and the identification of genetic changes in the GNPTG gene. By studying these changes, researchers aim to develop a better understanding of the underlying mechanisms of disease and identify potential targets for therapy.

Overall, the scientific articles available on PubMed provide a wealth of information on the GNPTG gene, its variants, and their role in genetic disorders. This knowledge is vital for advancing research and improving the diagnosis, management, and treatment of GNPTG gene-related diseases.

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Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It lists genetic conditions and the genes that are known to cause them, including the GNPTG gene.

The GNPTG gene, also known as the gamma subunit of the N-acetylglucosamine-1-phosphotransferase complex, is responsible for encoding a protein involved in the formation of an enzyme that processes other proteins in the cell. Mutations in the GNPTG gene can lead to Mucolipidosis III, a rare genetic disorder.

Mucolipidosis III is characterized by the accumulation of certain substances in cells, which can lead to a range of symptoms such as developmental delays, skeletal abnormalities, and impaired vision. The OMIM database provides detailed information on these conditions, including names, genetic changes, and additional resources for testing and treatment.

In addition to OMIM, there are other databases and resources available for further research on GNPTG gene mutations and related diseases. These include the Registry of Geno-Types and Phenotypes (dbGaP), PubMed, and various articles and references.

Healthcare professionals and researchers can use this catalog of genes and diseases from OMIM to access valuable information on genetic conditions, genes, and variants. It provides a useful resource for understanding the genetic causes of diseases and for conducting further research and testing.

Gene and Variant Databases

In the field of genetics, databases are an essential resource for researchers and healthcare professionals working with genetic information. These databases provide comprehensive and up-to-date information about genes, mutations, and disease variants.

One widely used database is OMIM (Online Mendelian Inheritance in Man), which catalogs genetic diseases and their associated genes. OMIM provides detailed information on the phenotypic and molecular characteristics of genetic disorders, as well as references to relevant scientific articles.

Another important database is the GNPTG Gene and Variant Databases. This database specifically focuses on the GNPTG gene, which encodes the gamma subunit of the N-acetylglucosamine-1-phosphotransferase enzyme. Mutations or changes in this gene can cause mucolipidosis III, a genetic disorder that affects lysosomal function and can lead to various health problems.

The GNPTG Gene and Variant Databases provide a centralized repository of information on GNPTG gene mutations and their associated phenotypes. The database includes information on the molecular effects of these mutations, as well as the clinical manifestations of mucolipidosis III. It also lists additional resources and references, such as articles from PubMed, that can provide further information on this gene and its related diseases.

In addition to OMIM and the GNPTG Gene and Variant Databases, there are many other gene and variant databases available. These databases cover a wide range of genetic conditions and provide resources for genetic testing and research. Some databases focus on specific genes or diseases, while others provide more general information on genetic variants.

To access information from these databases, researchers and healthcare professionals can search for specific genes or genetic variants of interest. They can also use databases to find genetic tests and testing laboratories that offer testing for specific genetic conditions.

Overall, gene and variant databases play a crucial role in the field of genetics. They provide a valuable resource for understanding the genetic basis of diseases and for improving diagnosis and treatment options for patients with genetic conditions.

References