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The NPC2 gene, also known as “niemann-pick C2” gene, plays a crucial role in the regulation of cholesterol transport within cells. Located on chromosome 14 at position q24.3, it encodes a protein involved in the movement of cholesterol from the late endosome to other cellular compartments.

Studies have found that mutations in the NPC2 gene can result in a rare genetic disorder called Niemann-Pick disease type C (NP-C). NP-C is a progressive and debilitating neurodegenerative disorder characterized by the accumulation of cholesterol and other lipids in cells, leading to organ dysfunction.

Information on the NPC2 gene and NP-C can be found in various resources, including the National Center for Biotechnology Information’s Gene database and the Online Mendelian Inheritance in Man (OMIM) catalog.

Scientific articles related to NPC2 gene and NP-C can be accessed through PubMed, a free online database of biomedical literature. These articles provide additional information on the gene, its role in the disease, and potential therapeutic strategies.

Clinical and genetic testing for NP-C may involve analyzing changes in the NPC2 gene. Resources such as the Orphanet database and the NPC2 gene entry in the OMIM catalog provide information on available tests, clinical features, related conditions, and genetic counseling.

Overall, the NPC2 gene and its associated protein play a critical role in maintaining cellular cholesterol homeostasis. Better understanding of this gene and its variant forms can contribute to the development of targeted therapies for NP-C and related diseases.

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Genetic changes in the NPC2 gene can have a significant impact on a person’s health. Variants in this gene can lead to Niemann-Pick disease type C (NP-C), a rare genetic disorder that affects the body’s ability to metabolize cholesterol and lipids.

Testing for genetic changes in the NPC2 gene can be done through specialized genetic tests. Some of these tests are available for free through research studies, scientific resources, and databases such as the Online Mendelian Inheritance in Man (OMIM), and the Catalog of Genes and Genetic Disorders. These tests can help identify genetic changes associated with NP-C and other related diseases.

Information about these genetic changes and associated health conditions can be found in scientific articles, databases, and resources such as PubMed, Orphanet, and the NP-C Clinical and Genetic Database. These sources provide valuable information about the genetics and clinical presentation of NP-C and related diseases.

In addition to NP-C, genetic changes in the NPC2 gene can also be associated with other health conditions. These include Vanier-like disease, a rare lipid storage disorder that shares some similarities with NP-C. Further research is needed to fully understand the implications of genetic changes in the NPC2 gene for these and other related conditions.

Overall, the study of the NPC2 gene and its associated genetic changes is important for understanding the underlying causes of NP-C and related diseases. It provides valuable insights into the development of diagnostic tests, treatment options, and potential therapies for individuals affected by these conditions.

Niemann-Pick disease

Niemann-Pick disease (NP) is a rare genetic disorder that affects the metabolism of lipids in cells. It is classified into several subtypes, including NP type A, NP type B, and NP type C. Each subtype is characterized by different genetic changes and presents with distinct symptoms.

NP type A, also known as acid sphingomyelinase deficiency, is caused by mutations in the SMPD1 gene. This gene is located on chromosome 11p15.4 and is responsible for producing the acid sphingomyelinase enzyme. Deficiency of this enzyme leads to the accumulation of sphingomyelin in various tissues and organs, resulting in the symptoms of NP type A.

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NP type B, also known as acid sphingomyelinase deficiency variant, is caused by mutations in the same SMPD1 gene. However, the mutations in NP type B allow some residual enzyme activity, leading to milder symptoms compared to NP type A.

NP type C is caused by mutations in the NPC1 or NPC2 gene. The NPC1 gene is located on chromosome 18q11-q12, and the NPC2 gene is located on chromosome 14q24.3. These genes are involved in the intracellular trafficking and transport of lipids. Defects in these genes result in the accumulation of cholesterol and other lipids in various tissues and organs, leading to the symptoms of NP type C.

Diagnosis of NP is based on clinical findings, biochemical testing, and genetic testing. Testing for NP can include blood tests, skin biopsies, MRI scans, and genetic testing to identify specific mutations.

NP is considered a rare disease and is listed in various disease databases, including Orphanet and OMIM. These databases provide comprehensive information about NP, including its clinical features, genetic changes, and treatment options.

Additional resources for information on NP and related conditions can be found on the official Niemann-Pick Disease Type C website, which offers a registry of patients and their families, scientific references, and links to other health resources. PubMed is also a valuable resource for finding scientific articles on NP and related topics.

In conclusion, NP is a rare genetic disorder that affects lipid metabolism in cells. It is classified into different subtypes based on the genes involved and presents with distinct clinical features. Diagnosis of NP involves various tests, including genetic testing. Disease databases and scientific literature are valuable resources for understanding NP and finding information on related conditions.

Other Names for This Gene

Here are some other names used to refer to the NPC2 gene:

  • Niemann-Pick C2 gene
  • Gene location: 14q24.3
  • Gene ID: 10577
  • Other Names for the Disease:
    • NP-C2

In scientific articles and databases, you may find this gene referred to by its other names. Some of these resources include:

  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed
  • Orphanet
  • The Genetic Testing Registry (GTR)

These resources provide additional information on the genetic conditions, diseases, and changes associated with the NPC2 gene. They also offer clinical testing and references to related articles.

It’s worth mentioning that the NPC2 gene is related to Niemann-Pick disease type C (NP-C), a rare and inherited disorder. NP-C is characterized by the accumulation of lipids in the body’s cells, particularly in the brain, liver, and spleen.

For more free information, articles, and genetic tests, you can consult these databases and resources:

  • PubMed
  • OMIM
  • Orphanet
  • The Genetic Testing Registry (GTR)

These resources are valuable for individuals seeking more information on the NPC2 gene and its variants, as well as for healthcare professionals and researchers studying this gene and its associated diseases.

Additional Information Resources

Here is a list of additional resources for more information on the NPC2 gene and related topics:

  • Orphanet: Orphanet provides information on rare diseases and orphan drugs. You can find information on Orphanet about the NPC2 gene and related diseases.
  • PubMed: PubMed is a database of scientific articles. You can search PubMed for articles related to the NPC2 gene, Niemann-Pick disease, and other related conditions.
  • OMIM: OMIM is a catalog of human genes and genetic disorders. You can find information about the NPC2 gene and related diseases in the OMIM database.
  • Nielsen Genet: Nielsen Genet provides genetic testing for Niemann-Pick disease type C (NP-C) and other genetic conditions. You can contact them for more information on genetic testing for the NPC2 gene.
  • Registry: There are registries and databases where patients and families affected by Niemann-Pick disease can register their information. This can include changes in the NPC2 gene and clinical information.
  • Free databases: There are free databases available that provide information on genetic diseases and genes. These databases can include information on the NP-C disease and the NPC2 gene.
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These resources can provide you with additional information on the NPC2 gene, Niemann-Pick disease, and related conditions. They can be helpful for further research, testing, and understanding of these rare diseases.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic conditions. One such condition is Niemann-Pick type С (NP-C), a rare genetic disorder caused by mutations in the NPC2 gene. This article provides an overview of the tests listed in the Genetic Testing Registry related to NP-C.

The Genetic Testing Registry (GTR) is a free online resource that provides information about genetic tests and their associated genes, diseases, and conditions. It serves as a comprehensive catalog of genetic tests available for clinical and research purposes.

As for NP-C, the GTR lists several genetic tests that focus on the NPC2 gene. These tests help identify changes or variants in the NPC2 gene that are indicative of NP-C. By detecting these genetic changes, healthcare providers can diagnose individuals with NP-C and initiate appropriate treatment strategies.

The GTR provides valuable information about the location and laboratory performing these genetic tests, making it easier for healthcare professionals to access the necessary testing resources. Additionally, the registry includes references from scientific publications such as PubMed, OMIM, and Orphanet, which further enhance the reliability and credibility of the listed tests.

Furthermore, the GTR offers additional resources and databases related to NP-C and other related genetic diseases. These resources provide clinicians and researchers with valuable information on disease characteristics, genetic variants, and diagnostic guidelines.

Overall, the Genetic Testing Registry serves as a comprehensive and reliable source of information on genetic testing for NP-C and various other rare genetic diseases. It offers a wealth of resources, referencing scientific publications and providing access to testing laboratories and their locations. This facilitates the diagnosis and management of NP-C, ultimately improving the overall health outcomes for individuals with this condition.

Scientific Articles on PubMed

Orphanet is a free resource that provides information on rare diseases and related genes. One of the genes listed in their database is the NPC2 gene, which is located on chromosome 14q24.3.

Vanier disease, also known as Niemann-Pick disease type C (NP-C), is a genetic disorder caused by changes in the NPC2 gene. NP-C is characterized by the accumulation of lipids in various cells, leading to a wide range of clinical symptoms.

PubMed is a database that contains scientific articles on various topics, including genetic diseases. A search for “NPC2 gene” on PubMed yields a list of articles related to this gene and its role in disease.

Some of the articles on PubMed provide information on the variants of the NPC2 gene and their association with specific diseases. Other articles explore the molecular and cellular mechanisms underlying the function of this gene.

In addition to PubMed, there are other databases and resources available for genetic testing and information on rare diseases. These resources can help clinicians and researchers in diagnosing and managing patients with NPC2 gene-related conditions.

References:

  • Orphanet – NPC2 gene: Orphanet provides information on rare diseases and related genes. The NPC2 gene is listed in their database.
  • PubMed – NPC2 gene: PubMed contains scientific articles on various topics, including genetic diseases. A search for “NPC2 gene” yields a list of articles related to this gene and its role in disease.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information on various genetic conditions and their associated genes. It includes a wide range of diseases, including rare and clinically significant disorders. The catalog also contains references to scientific articles and clinical resources related to these conditions.

The NP-C (Niemann-Pick Type C) disease is one of the many rare diseases listed in the OMIM catalog. NP-C is an orphanet genetic condition that affects the cells’ ability to transport cholesterol and other lipids properly. Mutations in the NPC2 gene, located on chromosome 14, are responsible for the development of NP-C.

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OMIM provides extensive information on the NP-C disease, including the genetic variant, gene changes, and testing resources available for diagnosis. The catalog also includes additional databases and resources where further information can be found.

References to scientific articles and clinical studies related to NP-C can be found in the OMIM catalog. PubMed is one of the notable databases cited for its rich collection of scientific literature on this disease. The Vanier Niemann-Pick disease registry is also included as a source of valuable clinical information.

OMIM offers free access to its catalog, making it a valuable resource for researchers, clinicians, and individuals interested in understanding rare genetic conditions. The catalog is organized in a user-friendly format, enabling easy navigation to find specific diseases, associated genes, and relevant information.

The OMIM catalog not only provides information on the NP-C disease but also covers a wide range of genetic conditions. Users can search for specific diseases, genes, or conditions, and access detailed descriptions and resources for each entry.

In summary, the OMIM catalog serves as a comprehensive and reliable source of information on genes and diseases. It offers a wealth of information on rare genetic conditions like NP-C, including genetic variants, testing resources, and references to scientific and clinical articles. Researchers, clinicians, and individuals seeking information on these conditions can benefit significantly from the resources provided by OMIM.

Gene and Variant Databases

Genes play a crucial role in our genetic makeup and are responsible for various traits and conditions. To better understand genes and their related variants, several databases provide free access to valuable information.

One such database is the Genetic Testing Registry (GTR), which lists genetic tests and their associated genes. GTR provides information on gene location, changes, and the conditions they are related to. It is a comprehensive catalog that helps researchers and healthcare providers in their work.

Another useful resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on genes and their variants, including associated diseases. It serves as a valuable reference for scientists and clinicians interested in genetic research and rare diseases.

The Orphanet database is dedicated to rare diseases and provides information on genes and variants implicated in these conditions. It offers comprehensive and up-to-date resources for healthcare professionals and researchers working on orphan diseases.

In addition to these scientific databases, several other resources are available for gene and variant information. PubMed, a repository of scientific articles, allows researchers to access articles on gene and variant studies. It serves as a valuable reference for further research and staying updated with the latest advancements.

The Clinical Genetic Variants (ClinVar) database is another important resource for variant information. It aggregates data from various sources and provides information on the clinical significance of these variants. ClinVar helps in understanding the impact of genetic changes on human health.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic conditions. They provide researchers, clinicians, and patients with valuable information on genes, variants, and their association with diseases. These databases are essential tools for genetic testing, research, and improving patient health.

References

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