The NAGA gene, also known as alpha-N-acetylgalactosaminidase, is responsible for producing an enzyme that breaks down complex sugars in the body. This gene has been the subject of extensive research and is associated with several different health conditions.
There are many databases and registries that provide information on the NAGA gene and its variants. These resources include the OMIM database, which provides detailed information on genetic changes associated with diseases. PubMed, a comprehensive database of scientific articles, also provides references to articles on the NAGA gene and related diseases.
Testing for changes in the NAGA gene can be used to diagnose and identify individuals at risk for certain diseases. Many laboratories offer genetic tests that specifically look for variants in this gene. This information can be used to provide additional references for healthcare providers and patients in understanding the implications of these genetic changes.
Some of the diseases associated with changes in the NAGA gene include Schindler disease types I and II and alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency. These conditions are characterized by abnormalities in the breakdown of complex sugars, leading to a buildup of these substances in the body.
In conclusion, the NAGA gene plays a crucial role in health and disease. Understanding the genetic changes in this gene can provide important information for diagnosing and managing related conditions. Multiple databases, testing resources, and scientific articles are available to provide comprehensive information on the NAGA gene and its associated diseases.
Health Conditions Related to Genetic Changes
Genetic testing plays a crucial role in identifying and diagnosing various health conditions related to genetic changes. One such condition is Sakuraba disease, which is caused by a mutation in the NAGA gene. The NAGA gene provides instructions for producing an enzyme called alpha-NAGA, which is responsible for breaking down a certain type of complex sugar molecule.
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Scientific research has revealed that changes in the NAGA gene can lead to structural changes in the alpha-NAGA enzyme, impairing its ability to function effectively. This can result in the accumulation of complex sugar molecules within certain tissues and organs, causing health problems associated with Sakuraba disease.
Genetic databases and resources, such as Online Mendelian Inheritance in Man (OMIM), provide additional information on health conditions related to genetic changes. These databases list diseases and their associated genes, variants, and complex protein structures. They also provide references to scientific articles and other sources of information, allowing researchers and healthcare professionals to access relevant data.
For example, the OMIM catalog lists the NAGA gene as being associated with Sakuraba disease. This entry includes information on the genetic changes, structural variants, and health conditions related to mutations in the NAGA gene.
In addition to Sakuraba disease, other diseases related to genetic changes in the NAGA gene are also listed in the OMIM registry. By conducting genetic tests, researchers and healthcare professionals can identify these genetic changes and provide appropriate diagnoses and treatment plans for individuals affected by these conditions.
Overall, genetic testing plays a crucial role in identifying and diagnosing health conditions related to genetic changes. By understanding the genetic basis of these diseases, researchers and healthcare professionals can develop targeted therapies and interventions to improve the health outcomes of affected individuals.
| Resources | References |
|---|---|
| OMIM | https://www.omim.org/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| Schindler Disease Registry | https://schindlerdisease.net/ |
Schindler Disease
Schindler disease is a rare genetic disorder that is caused by mutations in the NAGA gene. It is classified as a type of lysosomal storage disease, which means that it affects the function of lysosomes in cells.
The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). This enzyme is involved in breaking down complex sugars called glycoproteins and glycolipids. When the NAGA gene is mutated, the enzyme is not produced or does not function properly, leading to the buildup of these complex sugars in lysosomes.
Schindler disease can be divided into two subtypes: type I and type II. Type I is the more severe form and is characterized by early-onset neurologic problems and developmental delay. Type II is typically milder and may only present with symptoms later in life.
Schindler disease was first described by Schindler and Sakuraba in 1991. Since then, numerous articles have been published on the disease, documenting different clinical manifestations and genetic changes associated with it. Information about Schindler disease can be found in scientific databases such as PubMed, OMIM, and Genetests.
Medical professionals can perform diagnostic tests to confirm a diagnosis of Schindler disease. These tests may include genetic testing to identify mutations in the NAGA gene or enzyme activity testing to measure the levels of alpha-NAGA in the blood or other tissues.
For additional information on Schindler disease, the Genetics Home Reference and Orphanet websites provide resources such as patient registries, articles, and references to scientific literature.
In summary, Schindler disease is a rare genetic disorder caused by mutations in the NAGA gene. It is classified as a lysosomal storage disease and affects the function of lysosomes in cells. Diagnostic tests and additional resources are available to aid in the understanding and management of this condition.
Other Names for This Gene
The NAGA gene is also known by the following names:
- Alpha-NAGA
- Sakuraba disease gene
- Alpha-N-acetylgalactosaminidase gene
These names refer to the same gene and are used interchangeably in scientific literature and databases.
The NAGA gene has been linked to various diseases and conditions. It is associated with:
- Alpha-NAGA deficiency
- Genetic variants in the NAGA gene
- Structural changes in the NAGA gene
- Related diseases and conditions
Databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Genetests provide additional information and references on diseases and genet
ic testing related to the NAGA gene.
Furthermore, the NAGA gene is listed in the OMIM catalog, which catalogs genes and genetic complexes associated with various diseases and conditions.
For more information and resources on the NAGA gene, including testing options and disease registries, individuals can consult these databases and references.
Additional Information Resources
- For additional information on the NAGA gene, related diseases, and genetic testing, you can visit the following resources:
Online Databases and Catalogs:
- OMIM (Online Mendelian Inheritance in Man): OMIM provides detailed information on the NAGA gene, its functional changes, and associated diseases.
- PubMed: PubMed offers scientific articles and research papers on the NAGA gene, alpha-NAGA, and related diseases.
- Genetests: Genetests is a comprehensive resource for genetic testing information, including testing for diseases involving the NAGA gene.
- Genetic Testing Registry: The Genetic Testing Registry lists laboratories that offer testing for diseases related to the NAGA gene.
Disease-Specific Resources:
- Schindler Disease: Schindler disease is one of the conditions associated with NAGA gene mutations. You can find additional information on this specific disease from reputable sources.
- Alpha-NAGA Deficiency: Alpha-NAGA deficiency is another name for a group of diseases caused by changes in the NAGA gene. Information on different variants and associated conditions can be found through specialized resources.
Scientific Articles and Research Papers:
- Structural and Functional Changes in the NAGA Gene: Scientific articles provide insight into the specific genetic changes and their effects on NAGA gene function.
- Other Genes and Complexes: Some diseases related to the NAGA gene may involve interactions with other genes or protein complexes. Research papers can shed light on these connections.
By exploring these resources, you can gather additional information on the NAGA gene, its role in various diseases, and the available testing options.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for a variety of diseases and conditions. The GTR is maintained by the National Institutes of Health (NIH) and is a valuable tool for healthcare providers, researchers, and individuals seeking genetic testing information.
The GTR contains information on tests for different genes associated with various diseases and conditions. Among the genes listed in the GTR is the NAGA gene.
The NAGA gene is associated with a group of diseases known as alpha-NAGA-related Schindler disease. This condition is a type of lysosomal storage disease that affects the breakdown of certain complex sugars in the body.
The GTR provides access to a wealth of information on genetic tests for alpha-NAGA-related Schindler disease, including the specific tests available, their purpose, and the conditions they can help diagnose.
In addition to the GTR, there are other resources available for obtaining information on genetic tests for alpha-NAGA-related Schindler disease. These resources include scientific articles from PubMed and OMIM, as well as databases that provide information on genetic variations and their effects on health.
Healthcare providers and individuals interested in learning more about alpha-NAGA-related Schindler disease and the genetic tests available can consult these resources to obtain detailed information on the disease, the NAGA gene, and the specific tests recommended for diagnosis.
In conclusion, the Genetic Testing Registry is a valuable resource for obtaining information on genetic tests for a wide range of diseases and conditions. For alpha-NAGA-related Schindler disease, the GTR provides access to information on the NAGA gene, its associated diseases, and the tests available for diagnosis. By consulting additional resources such as PubMed, OMIM, and genetic variation databases, individuals can obtain a comprehensive understanding of alpha-NAGA-related Schindler disease and the genetic tests used for its diagnosis.
Scientific Articles on PubMed
The NAGA gene variant has been extensively studied, with several scientific articles available on PubMed.
One study by Schindler et al. analyzes the catalog of NAGA gene variants and provides information on their structural changes and associated genetic conditions. The study lists additional databases for further research on the NAGA gene, including the Sakuraba database for testing genetic diseases.
Several other articles published in scientific journals can also be found on PubMed. These articles provide information on the NAGA gene, its functions, and its role in various diseases. They discuss the alpha-NAGA enzyme and its complexes, as well as provide health-related information and testing procedures for NAGA gene-related diseases.
In addition to articles specifically focused on the NAGA gene, PubMed also provides references to scientific articles on related genes and diseases. The database contains information on other diseases that exhibit similar symptoms or genetic changes, as well as information on genes that are structurally different from the NAGA gene but functionally related.
Researchers and healthcare professionals can utilize the information available on PubMed to gain a comprehensive understanding of the NAGA gene, its variants, and their implications in various diseases. This scientific knowledge can assist in the development of diagnostic testing procedures, treatment strategies, and further research on genetic conditions associated with the NAGA gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases. It provides valuable information on genetic conditions and testing resources.
The Sakuraba catalog includes genes associated with various diseases. OMIM is one of the largest and most comprehensive databases for genetic disease information.
OMIM lists genes related to different diseases, along with their genetic changes and variants. It also provides additional information on the conditions and their associated health implications.
OMIM is a valuable resource for genetic testing and research. It provides a registry of genes and diseases, allowing researchers and healthcare providers to easily access relevant information.
The catalog includes genes and diseases from various specialties, such as genet ics, pediatrics, and internal medicine. It covers a wide range of conditions, from rare genetic disorders to more common diseases.
In addition to genes and diseases, OMIM also provides references to articles and publications related to specific conditions. These references can be found in PubMed and other related databases.
OMIM also offers tests for specific variants and changes in genes. These tests can help in diagnosing genetic conditions and providing appropriate treatment options.
The catalog includes information on the alpha-NAGA gene, which is associated with Schindler disease. This gene plays a role in the structural changes of certain complexes in the body.
Overall, OMIM is a valuable resource for accessing comprehensive information on genes and diseases. It offers a wealth of resources and databases to support research and healthcare professionals in their work.
Gene and Variant Databases
Gene and variant databases play a crucial role in understanding the NAGA gene and its related diseases. These databases provide a centralized repository of information on genes, variants, and their association with various diseases and conditions.
One of the prominent databases in this field is the Online Mendelian Inheritance in Man (OMIM) database. It catalogs the known genes and genetic disorders, including those related to the NAGA gene. OMIM provides comprehensive information on the gene’s structure, function, and associated diseases.
Another important resource is the Human Gene Mutation Database (HGMD). This database focuses on genetic mutations and their impact on human health. It provides information on both disease-causing mutations as well as benign variants.
For comprehensive information on genetic variations and their association with diseases, the Exome Aggregation Consortium (ExAC) database is frequently used. It includes data from thousands of individuals and provides insights into the frequency and distribution of genetic variants in the general population.
In addition to these databases, there are also disease-specific databases that focus on certain conditions related to the NAGA gene. For example, the NAGA Mutation Database provides curated information on different mutations in the NAGA gene and their association with the Schindler or alpha-NAGA disease.
Researchers and healthcare professionals can use these databases to access information on known variants, search for specific genetic changes, and obtain references to relevant articles and resources. They are invaluable tools for genetic testing, structural and functional analysis, and understanding the genetic basis of diseases.
Overall, gene and variant databases provide a wealth of information on the NAGA gene, its variants, and their relationship to different diseases and conditions. They serve as essential resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.
References
- Sakuraba H. Schindler disease. In: GeneReviews® [Internet]. University of Washington, Seattle; 2004.
- NAGA gene. Genetics Home Reference. U.S. National Library of Medicine.
- Sakuraba H. Schindler disease. In: Atlas of Genetics and Cytogenetics in Oncology and Haematology.
- Sakuraba H, et al. Structural and genetic bases of Schindler disease. The NAGA gene and alpha-NAGA deficiency. Adv Genet. 2001; 44:167-203.
- NAGA gene. OMIM® [Internet]. Johns Hopkins University; 2016.
- Testing for alpha-NAGA deficiency. Genetics Home Reference. U.S. National Library of Medicine.
- Alpha-N-acetylgalactosaminidase (NAGA) gene. Online Mendelian Inheritance in Man (OMIM).