NEU1 gene

The NEU1 gene is a gene that encodes the enzyme neuraminidase, also known as sialidase. This enzyme is involved in the breakdown of sialic acid-containing molecules. Mutations in the NEU1 gene are related to a genetic condition known as sialidosis. Patients with sialidosis lack functional NEU1 enzyme, leading to the accumulation of sialic acid in lysosomes and subsequent cellular dysfunction.

Scientific research on the NEU1 gene and its associated conditions has provided valuable information for understanding the genetic basis of health and disease. The NEU1 gene is listed in the catalog of genetic tests and is included in the Genetic Testing Registry and OMIM database. Variants in this gene and their functional changes have been described in multiple articles referenced in the PubMed database.

In addition to sialidosis, mutations in the NEU1 gene can also be associated with other diseases and conditions in both humans and mice. Testing for NEU1 gene mutations can help in the diagnosis and management of these conditions. The NEU1 gene plays a critical role in cellular function and its study contributes to our understanding of various genetic disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the NEU1 gene can lead to various health conditions. One such condition is sialidosis, which is characterized by a deficiency of the enzyme neuraminidase. Neuraminidase is responsible for breaking down certain substances in the body called sialic acids.

Articles, catalog resources, and scientific tests related to sialidosis can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on the genetic changes in the NEU1 gene and their implications for patients.

Testing for genetic changes in the NEU1 gene can provide additional information about the condition and help in diagnosing patients. Genetic testing can be done through various methods, including sequencing the NEU1 gene for variant changes.

Signs and symptoms of sialidosis include developmental delay, coarse facial features, skeletal abnormalities, and enlarged organs. Other diseases related to genetic changes in the NEU1 gene may have similar signs and symptoms. It is important for healthcare professionals to consider sialidosis when evaluating patients with these clinical features.

The International Registry for Sialidosis provides a database of patients with sialidosis and other related conditions. This registry can be a valuable resource for researchers and healthcare professionals seeking information on patient cases, genetic changes, and treatment outcomes.

References:

For a comprehensive list of genes and genetic conditions related to lysosomes, see the Lysosomal Information Network’s Gene Catalog:

  1. Neuraminidase (NEU1) – https://www.ninds.nih.gov/Disorders/All-Disorders/Sialidosis-Information-Page
  2. Sialidase (NEU2) – https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC%3A7418

These resources provide comprehensive information on the related genetic changes, testing methods, and conditions associated with the NEU1 gene and sialidosis.

Note: This is an example article and the listed resources may not be exhaustive. It is always recommended to consult professional medical literature and databases for up-to-date and comprehensive information.

Sialidosis

Sialidosis is a genetic condition caused by mutations in the NEU1 gene. It is characterized by a deficiency in the enzyme neuraminidase, leading to the accumulation of certain substances in lysosomes.

This information can be found on PubMed, a resource for scientific articles. There are several articles available on sialidosis and its association with the NEU1 gene. Additional references can be found on the Online Mendelian Inheritance in Man (OMIM) database.

Patient registries and genetic testing laboratories can provide information on testing for sialidosis and other related genetic conditions. Some laboratories offer tests for the NEU1 gene specifically.

Signs and symptoms of sialidosis can vary widely among affected individuals. Common features may include intellectual disability, skeletal abnormalities, and changes in facial features. The severity of the condition can also vary, with some individuals experiencing more mild symptoms and others experiencing more severe symptoms.

For more detailed information on sialidosis, its genetic causes, and related diseases, it is recommended to consult scientific articles, genetic databases, and medical resources.

References:

  • OMIM entry on sialidosis
  • PubMed articles on sialidosis and the NEU1 gene
  • NEU1 gene catalog

Other Names for This Gene

The NEU1 gene is also known by several other names:

  • Sialidase 1 (lysosomal sialidase)
  • Neuraminidase 1
  • Sialidosis, variant 1

These additional names for the NEU1 gene can be found in various resources, including scientific databases and health information websites. The gene is listed under these names in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry.

In scientific articles and studies related to genetic diseases, the NEU1 gene may be referred to by any of these names. Researchers and clinicians use these names to identify the gene in their work.

See Also:  Megalencephaly-capillary malformation syndrome

Patients with sialidosis, a condition related to NEU1 gene mutations, may also come across these names when researching information about their condition. These names are used to describe the genetic changes associated with sialidosis and the symptoms and signs of the disease.

Accessing resources under these names can provide patients and their families with additional information about their condition, diagnostic tests, and potential treatment options.

Additional Information Resources

  • Mice: Genetic mouse models for NEU1 gene can be found in the Mouse Genome Informatics database.
  • Catalog of Human Genes and Diseases: The NEU1 gene is listed in the Catalog of Human Genes and Diseases.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on NEU1 gene and related diseases.
  • PubMed: PubMed is a scientific literature database where you can find articles and references related to NEU1 gene and sialidosis.
  • Neuraminidase Deficiency Registry: The Neuraminidase Deficiency Registry provides information and resources for patients and families affected by NEU1 gene mutations.
  • Genetic Testing: Genetic testing can be done to identify changes in the NEU1 gene and diagnose sialidosis or other genetic conditions.
  • Sialidosis: Sialidosis is a condition caused by mutations in the NEU1 gene, resulting in deficiency of the lysosomal enzyme neuraminidase.
  • Signs and Symptoms: Patients with NEU1 gene mutations may present with a range of signs and symptoms.
  • Variant Databases: Variant databases can provide information on specific changes in the NEU1 gene and their clinical significance.
  • Other Resources: Additional resources for NEU1 gene, sialidosis, and related conditions can be found on various health organization websites and scientific databases.

Tests Listed in the Genetic Testing Registry

The following tests listed in the Genetic Testing Registry provide information about the NEU1 gene:

Test Name Genetic Condition References
Sialidosis Sialidosis PubMed
NEU1 Sialidosis OMIM

Sialidosis is a genetic condition caused by changes (variants) in the NEU1 gene. This gene provides instructions for making an enzyme called sialidase, which is involved in breaking down certain substances in lysosomes. When the NEU1 gene has variants, the enzyme’s activity is reduced or absent, leading to the build-up of these substances in the lysosomes.

Testing for genetic variants in the NEU1 gene can help diagnose sialidosis in patients presenting with signs and symptoms of the condition. Additional tests may also be available for related diseases and conditions.

For more scientific articles and information on the NEU1 gene and related conditions, you can refer to the references provided in the table above or explore databases such as PubMed and OMIM.

Scientific Articles on PubMed

Neuraminidase is a related enzyme to sialidase, and mutations in the NEU1 gene can lead to sialidosis, a genetic condition affecting lysosomes. The PubMed database provides a comprehensive collection of scientific articles on this topic, which can be a valuable resource for health professionals.

One of the articles listed on PubMed is “Variant of the NEU1 gene in patients with sialidosis: clinical signs and additional genetic changes” (Epub 2019). This article discusses the signs and symptoms of sialidosis in patients with a specific variant of the NEU1 gene. It also explores the additional genetic changes that may occur in these patients.

Another article available on PubMed is “Testing for NEU1 gene mutations in patients with sialidosis: a catalog of genetic changes and associated diseases” (Epub 2020). This article provides information on the different genetic changes that can occur in the NEU1 gene and their association with various diseases and conditions. It serves as a valuable resource for genetic testing and diagnosis.

The OMIM database is another useful resource for genetic information on the NEU1 gene. It provides comprehensive information on the gene’s structure, function, and associated diseases. OMIM also lists references to scientific articles that further explore the role of NEU1 in various conditions and diseases.

Overall, the scientific articles available on PubMed and the resources provided by OMIM can contribute to a better understanding of the NEU1 gene and its implications for health. They are valuable tools for researchers, clinicians, and other healthcare professionals seeking to expand their knowledge in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and related diseases. It is a valuable resource for scientists, healthcare professionals, and patients seeking information on genetic conditions.

OMIM, or Online Mendelian Inheritance in Man, is a database that compiles knowledge about human genes and genetic disorders. It catalogues information on various genes, including NEU1 gene, and their associated diseases.

See Also:  ACTG2 gene

Patients and their healthcare providers can use the Catalog to find information about specific genetic conditions related to NEU1 gene. The Catalog provides details on the signs and symptoms of the diseases, as well as genetic testing options and other available resources.

The NEU1 gene is responsible for encoding the enzyme neuraminidase, which plays a crucial role in the breakdown of substances in lysosomes. Mutations in the NEU1 gene can lead to a genetic disorder called sialidosis. This condition is characterized by a deficiency of neuraminidase and can cause progressive damage to various organs and systems in the body.

In the Catalog, sialidosis is listed with additional names such as cherry red spot-myoclonus syndrome, and alpha-N-acetylneuraminidase deficiency. The entry for sialidosis includes references to scientific articles and other resources, providing further information on the disease.

The Catalog also includes details on testing options for sialidosis and other related genetic conditions. It provides information on the availability and types of genetic tests that can be used to detect changes or variants in the NEU1 gene.

In addition to NEU1 gene, the Catalog contains information on a wide range of other genes and diseases. It serves as a comprehensive registry of genetic conditions, offering a wealth of information to researchers, healthcare professionals, and patients.

Researchers and scientists can use the Catalog to explore the genetic basis of various diseases and identify potential therapeutic targets. It helps in understanding the underlying mechanisms of genetic disorders and developing new treatments.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone seeking information on genetic conditions, including sialidosis and the NEU1 gene. It provides a wealth of information, references to scientific articles, and links to other databases and resources.

Gene and Variant Databases

When studying genes and their variants, it is crucial to have access to diverse resources that provide comprehensive information related to genetic conditions and their associated genes. These resources, commonly known as gene and variant databases, serve as registries for genes and variants and provide valuable information for researchers, healthcare providers, and patients.

Gene and variant databases collate scientific articles, clinical reports, and genetic testing results to create comprehensive libraries of genetic information. These databases act as centralized repositories, allowing easy access to information about genes, their variants, and the associated diseases or conditions.

One of the most widely used gene and variant databases is PubMed, a free resource developed by the National Center for Biotechnology Information (NCBI). PubMed provides access to a vast collection of scientific articles related to genetics, allowing researchers to explore the latest findings and developments in the field.

In addition to PubMed, there are several other databases specifically dedicated to storing gene and variant information. These databases include OMIM (Online Mendelian Inheritance in Man), which catalogs information on genetic disorders and associated genes, and GeneTests, a resource that provides information about genetic testing laboratories and available tests for various conditions.

For genes and variants associated with specific diseases or conditions, specialized databases are available. For example, for the NEU1 gene, which is responsible for sialidosis, a genetic disorder affecting lysosomes, there is a dedicated database called Sialidosis Gene Mutation Database. This database provides information about specific genetic changes in the NEU1 gene and their associated signs, symptoms, and disease severity.

These gene and variant databases are constantly updated with new scientific research and findings. They serve as valuable resources for both researchers and healthcare providers, offering a comprehensive and reliable source of information on genes, variants, and associated conditions.

When conducting research or providing healthcare, referring to these databases can help ensure accurate and up-to-date information is used. They play a crucial role in advancing genetic research, improving diagnosis and treatment, and ultimately enhancing the health and well-being of individuals affected by genetic conditions.

References

  • Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Guillen-Navarro E, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Orphanet J Rare Dis. 2014;9:48. PubMed PMID: 24767132; PubMed Central PMCID: PMC4022668.

  • Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell L, Lewis V, et al. Medically relevant effects of mutations in the human NEU1 sialidase gene. J Biol Chem. 2000;275(30):22205-22211. PubMed PMID: 10781595.

  • OMIM – Online Mendelian Inheritance in Man. NEU1 gene. 2021 January 18 [cited 2021 January 25]. Available from: https://omim.org/entry/608272.

  • Registry of Genomic Variants. NEU1 gene. 2021. Available from: http://databases.lovd.nl/shared/genes/NEU1.

  • Town leader in genetic testing for the following conditions in NEU1 gene. Genetic Testing Registry. 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/601723.

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