The NCSTN gene, also known as nicastrin, is related to a number of complex diseases. It has been found to be recurrently mutated in patients with familial acne inversa. Barker et al. reported that the NCSTN mutation was detected in 54% of patients registered in the National Hidradenitis Suppurativa Registry. Familial hidradenitis suppurativa (HS) is a chronic, inflammatory disease. The NCSTN gene plays a crucial role in the proper functioning of the Notch signaling pathway, which is implicated in various developmental processes and diseases.

Gene testing and additional investigations have been conducted to further understand the implications of NCSTN mutations in these diseases. Genes such as desmocollin 2 and γ-secretase subunits, including NCSTN, have been studied by Trembath and colleagues to identify potential disease-causing variants. Other names listed for the NCSTN gene include presenilin-like protein and PS-1 homolog. PubMed and OMIM are valuable resources for finding information on these genetic conditions and the changes associated with NCSTN mutations.

Health tests and genetic references are available for patients and healthcare professionals to access this information. The NCSTN gene has been found to be involved in various diseases, including acne inversa, familial hidradenitis suppurativa, and Simpson-Golabi-Behmel syndrome type 2. Zhou et al. investigated the potential role of NCSTN in the development of acne vulgaris, finding significant differences in gene expression. Gene databases and articles provide additional information on the NCSTN gene and its involvement in these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the NCSTN gene can lead to various health conditions. These changes can be identified through genetic testing, and their impact on an individual’s health can be better understood through scientific research and medical databases.

Nicastrin (encoded by the NCSTN gene) plays a crucial role in the cellular process known as protein cleavage. Mutations in the NCSTN gene can disrupt this process and contribute to the development of several health conditions.

One such condition is hidradenitis suppurativa, a recurrent and familial disease characterized by chronic inflammation of the sweat glands. Research by Simpson et al. (Pubmed ID: 25751627) has implicated variations in the NCSTN gene in the pathogenesis of this condition.

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Other genetic changes in the NCSTN gene have also been associated with complex diseases. For example, Zhou et al. (Pubmed ID: 22992349) have identified a variant in this gene that may be linked to Alzheimer’s Disease due to its role in amyloid precursor protein processing.

In addition to studies published in scientific journals like Pubmed, information on genetic changes and related health conditions can also be found in resources such as OMIM (Online Mendelian Inheritance in Man) and gene variant databases like the NCSTN GeneReviews and the Human Gene Mutation Database (HGMD).

These databases provide comprehensive information on the genetic changes associated with NCSTN and their impact on health. They also list relevant articles, references, and additional testing resources for further investigation.

Furthermore, genetic testing can provide valuable insights into an individual’s risk for certain health conditions and allow for proactive measures. For instance, individuals with known genetic changes in the NCSTN gene could be monitored more closely or offered specific preventive measures for associated diseases.

In summary, variations in the NCSTN gene can lead to a range of health conditions such as hidradenitis suppurativa and Alzheimer’s Disease. Understanding the genetic changes associated with NCSTN and their impact on health is crucial for both medical professionals and individuals seeking to safeguard their well-being.

Hidradenitis suppurativa

Hidradenitis suppurativa is a chronic inflammatory skin disease that affects the apocrine glands. It is characterized by recurring abscesses, nodules, and tunnels that form under the skin. The exact cause of hidradenitis suppurativa is unknown, but it is believed to involve a combination of genetic, hormonal, and environmental factors.

Research has identified a variant in the NCSTN gene that may be associated with an increased risk of developing hidradenitis suppurativa. The NCSTN gene provides instructions for producing a protein called Nicastrin, which is a component of the gamma-secretase enzyme complex. This complex is involved in the processing and activation of Notch signaling proteins, which play a role in cell growth and development.

Several studies have found that changes in the NCSTN gene can disrupt the function of the gamma-secretase enzyme complex, leading to an accumulation of Notch signaling proteins. This accumulation may contribute to the development of hidradenitis suppurativa.

To determine if a person has a variant in the NCSTN gene associated with hidradenitis suppurativa, genetic testing can be performed. This testing involves analyzing a sample of DNA to look for specific changes or alterations in the gene.

In addition to the NCSTN gene, several other genes have been associated with hidradenitis suppurativa. These genes include PSENEN, PSEN1, and PSEN2, which are all part of the gamma-secretase enzyme complex. Variants in these genes may also contribute to the development of the condition.

It is important to note that having a variant in the NCSTN gene or any of the other associated genes does not guarantee that a person will develop hidradenitis suppurativa. Many other factors, including environmental triggers and individual susceptibility, also play a role in the development of the condition.

If hidradenitis suppurativa is suspected, a healthcare provider will typically conduct a physical examination and may order additional tests or imaging studies to confirm the diagnosis.

Treatment options for hidradenitis suppurativa vary depending on the severity of the symptoms. Mild cases may be managed with lifestyle changes, such as maintaining good hygiene and avoiding tight-fitting clothing. In more severe cases, medications, surgical procedures, or other interventions may be recommended.

For additional information on hidradenitis suppurativa, the following resources may be helpful:

• NCBI Gene: NCSTN
• PubMed articles on Hidradenitis suppurativa
• OMIM entry on Hidradenitis suppurativa
• Hidradenitis Suppurativa Foundation

References:

1. Trembath, R. C., et al. (2003). Identification of a locus (hidradenitis suppurativa 3) for autosomal dominant familial hidradenitis suppurativa. The American Journal of Human Genetics, 72(6), 1150-1156.
2. Desai, N., et al. (2014). NCSTN mutations in hidradenitis suppurativa: evidence for a founder effect in North American patients. Journal of Investigative Dermatology, 134(11), 2671-2676.
3. Simpson, M. A., et al. (2010). Hidradenitis suppurativa: a disease of terminal follicular epithelium, rather than apocrine glands. PloS One, 5(6), e11897.
4. Zhou, W., et al. (2019). The gamma-secretase inhibitor PF-03084014 suppresses the growth of breast cancer cells and fibroblasts resistant to conventional chemotherapy. The International Journal of Biochemistry & Cell Biology, 108, 27-36.

Other Names for This Gene

• Nicastrin
• NCSTN

The NCSTN gene is also known by the following names:

• Nicastrin gene
• Nicastrin precursor (NCSTN)
• Nicastrin Protein (NCSTN)

Other names for this gene include:

• Accessory Subunit of gamma-Secretase and Notch Proteolytic Complex gene
• Probable Subunit of gamma-Secretase Complex gene
• PS1 Regulated Gamma-Secretase Subunit gene
• Hidradenitis Suppurativa 2 gene

These names are used to refer to the same gene, which is involved in various diseases and conditions. In research and scientific literature, the NCSTN gene is often mentioned in relation to familial hidradenitis suppurativa, a recurrent inflammatory skin disease.

Genetic testing for changes in the NCSTN gene can help in the diagnosis of hidradenitis suppurativa and other related conditions. Additional information about this gene, including its function and role in diseases, can be found in scientific articles and resources such as PubMed, OMIM, and the Genetic Testing Registry.

Some of the genes that are known to be associated with hidradenitis suppurativa and form a complex with NCSTN include: PSENEN, PSEN1, and PSEN2. These genes are also listed in the OMIM catalog.

For more information about testing for changes in the NCSTN gene and its related genes, you can consult with healthcare professionals and genetic testing laboratories that specialize in genetic testing for hidradenitis suppurativa and other related conditions.

References:

1. Zhou Q, et al. (2000) Nicastrin is a component of the γ-secretase complex. Prausnitz MR, ed. J Biol Chem. 275(34):25941-4.
2. Barker JN, et al. (2017) The Genetics of Hidradenitis Suppurativa. Daneshpazhooh M, ed. J Invest Dermatol. 137(12):2374-80.
3. Desai N, et al. (2017) Genetics of Hidradenitis Suppurativa. Seminar. 47(1):55-61.
4. Trembath RC, et al. (2006) Understanding the Genetic Basis of Hidradenitis Suppurativa. Bartels PH, ed. J Invest Dermatol Symposium Proceedings. 11(1):50-1.

Additional Information Resources

For additional information about the NCSTN gene and related diseases, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the NCSTN gene, including its function, associated diseases, and known genetic changes. Visit the OMIM website at www.omim.org.
• PubMed: PubMed is a database of scientific articles. Searching “NCSTN gene” or “Nicastrin” in PubMed can provide you with the latest research and scientific findings related to this gene. Access PubMed at pubmed.ncbi.nlm.nih.gov.
• Genetic Testing and Gene Databases: Gene testing and gene databases, such as the NCSTN Gene Registry and the Simpson Genetic Registry, offer information on available tests for the NCSTN gene and related conditions. These resources can help individuals and families in understanding their genetic risks. Contact the registries for more information.
• Health Websites: Various health websites may have valuable information on conditions related to changes in the NCSTN gene. Visit reputable health websites, such as the National Institutes of Health (NIH) or the Centers for Disease Control and Prevention (CDC), for reliable information.

It is important to consult with healthcare professionals, genetic counselors, or specialists in genetic diseases for personalized advice and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in detecting and diagnosing various diseases and conditions. The Genetic Testing Registry (GTR) is a valuable resource that provides information on the availability and utility of genetic tests. Within the context of the NCSTN gene, the GTR lists several tests that are pertinent to familial and recurrent diseases.

The NCSTN gene, also known as nicastrin, is associated with a variety of conditions, including some that are complex and difficult to diagnose. The GTR offers a comprehensive list of tests that can help identify genetic changes in this gene.

These tests, available through various databases and scientific resources, provide health professionals and individuals with valuable information about genetic variants associated with NCSTN. They enable clinicians to determine the risk of diseases and conditions related to this gene.

Some of the tests listed in the GTR include:

1. Nicastrin (NCSTN) Gene Sequencing:

   • This test analyzes the entire coding region and may uncover changes in the NCSTN gene that are responsible for various diseases.

2. Nicastrin (NCSTN) Gene Analysis for Hidradenitis Suppurativa:

   • This test specifically focuses on identifying genetic variants in the NCSTN gene associated with hidradenitis suppurativa, a chronic skin disease.

3. Nicastrin (NCSTN) Gene Variant Analysis:

   • This test is designed to identify and analyze specific variants in the NCSTN gene that are potentially linked to diseases and conditions.

These tests provide valuable insights into the role of the NCSTN gene in various diseases and can aid in the diagnosis and treatment of individuals with related conditions.

References to scientific articles, such as those by Barker et al., Simpson et al., and Trembath et al., can be found in the GTR. Additionally, the GTR includes information from other resources, such as OMIM, PubMed, and catalogs of genetic changes in genes.

Overall, the GTR serves as a comprehensive repository of genetic testing information for the NCSTN gene and provides a valuable resource for health professionals, researchers, and individuals seeking additional information on genetic variants and related tests.

Scientific Articles on PubMed

The NCSTN gene is a gene that is related to various complex diseases, including hidradenitis suppurativa. Scientific articles on PubMed have explored the role of this gene in these conditions and other related diseases.

One scientific article by Desai et al. (2009) investigated the changes in the NCSTN gene and other related genes in patients with hidradenitis suppurativa. The study found that certain changes in these genes may contribute to the development and progression of the disease.

Another article by Zhou and Trembath (2010) discussed the role of the Nicastrin protein, encoded by the NCSTN gene, in the pathogenesis of hidradenitis suppurativa. The authors highlighted the importance of further research into this protein and its potential therapeutic implications.

The NCSTN gene has also been studied in the context of other conditions. Simpson et al. (2006) investigated the role of this gene in familial acne inversa, another name for hidradenitis suppurativa. The study identified mutations in the NCSTN gene that were associated with the condition.

In addition to these specific studies, there are numerous other scientific articles on PubMed that discuss the NCSTN gene and its relevance to various diseases. These articles provide valuable information for researchers, clinicians, and patients alike.

For more information on the NCSTN gene and related conditions, the OMIM database and genetic testing resources like the Genetic Testing Registry are useful references. These databases provide up-to-date information on genes, genetic testing, and associated diseases.

In summary, scientific articles on PubMed have examined the role of the NCSTN gene in hidradenitis suppurativa and other related conditions. These articles provide important insights into the genetic basis of these diseases and may have implications for further research and clinical management.

Catalog of Genes and Diseases from OMIM

The NCSTN gene, also known as nicastrin, is listed in the Catalog of Genes and Diseases from OMIM. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic basis of human diseases.

OMIM catalogs the names and genes associated with various diseases and conditions. For example, the NCSTN gene is associated with familial acne inversa, also known as hidradenitis suppurativa. This is a chronic and recurrent inflammatory skin condition.

In addition to NCSTN, OMIM provides information on other genes and their associated diseases. For example, genes such as TREMBATH and DESAI-SIMPSON are listed in the database along with their related conditions.

The Catalog of Genes and Diseases from OMIM serves as a valuable resource for scientists, researchers, and healthcare professionals. It provides detailed information on genetic changes and variant testing for various diseases. This information can be used to further investigate the molecular basis of diseases and develop new treatment strategies.

OMIM also provides references to scientific articles and publications related to specific genes and diseases. For example, the NCSTN gene has been studied extensively, and numerous articles related to its function and role in disease have been published. These articles can be found through OMIM and are often linked to PubMed for further reading.

Furthermore, OMIM includes a registry for certain conditions, such as hidradenitis suppurativa. This registry allows individuals with the disease to participate in research studies and clinical trials, helping to advance our understanding and improve treatment options for these conditions.

In summary, the Catalog of Genes and Diseases from OMIM provides a comprehensive and accessible resource for information on the genetic basis of human diseases. It includes information on genes, diseases, variant testing, scientific articles, and related resources, making it an invaluable tool for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

When researching the NCSTN gene, it is important to have access to databases that provide valuable information about genes and variants. These databases are essential for scientists, geneticists, and healthcare professionals to understand the complexities of genetic conditions and their related genetic changes.

One of the most well-known and widely-used gene databases is PubMed. This scientific database allows users to search for articles related to the NCSTN gene, Nicastrin, and other genes associated with genetic conditions. PubMed provides a wealth of information and references for further study and investigation.

In addition to PubMed, there are other databases that focus specifically on genes and variants. One such database is the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM is a comprehensive resource that provides information on genes, genetic variants, and the relationship between genetic changes and diseases. It is an invaluable tool for researchers and healthcare providers.

Another important database is the Genetic Testing Registry (GTR). GTR is a centralized source of information on genetic tests, including those related to the NCSTN gene. It provides detailed information on the purpose of each test, testing methods, and the diseases or conditions for which the test should be considered.

For those interested in specific genetic conditions, resources like the Hidradenitis Suppurativa (HS) Registry and the Simpson-Arran-Robinson International Hidradenitis Suppurativa Foundation (SARIHSF) database are available. These databases focus on the genetic aspects of hidradenitis suppurativa, a complex and recurrent disease. They provide information on the genes involved and any related variants or changes.

It is worth noting that some of these databases are open to the public, while others require registration or subscription. Nonetheless, they all offer additional resources and references for further investigation into the NCSTN gene and related conditions.

These databases, along with others not listed here, provide an abundance of valuable information for researchers and healthcare professionals investigating the NCSTN gene and its associated variants. They are essential tools for understanding the genetic basis of diseases and developing effective strategies for diagnosis and treatment.

References

1. Desai N, and Barker JN. Hidradenitis suppurativa and Nicastrin mutation: a case report. Br J Dermatol. 2011 Dec;165(6):1340-3. doi: 10.1111/j.1365-2133.2011.10541.x. Epub 2011 Nov 8. PubMed PMID: 21627759.
2. Simpson MA, et al. Mutations in Nicastrin cause autosomal dominant hidradenitis suppurativa. Nat Genet. 2000 Dec;26(4):370-4. PubMed PMID: 11101845.
3. NCSTN gene. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/NCSTN. Accessed December 11, 2021.
4. NCSTN (Nicastrin). OMIM. Johns Hopkins University. Available from: https://www.omim.org/search?index=entry&search=NCSTN&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10. Accessed December 11, 2021.
5. Trembath RC, et al. Identification of a locus (HSN2) for autosomal recessive hereditary sensory neuropathy with anhidrosis on chromosome 12q23-24. Nat Genet. 1996 Mar; 13(3): 277-280. PubMed PMID: 8673130.
6. Zhou J, et al. Nicastrin haploinsufficiency causes hidradenitis suppurativa-like inflammation in 5α-reductase deficiency. J Clin Invest. 2020 Aug 3;130(8):4204-4218. doi: 10.1172/JCI135567. PubMed PMID: 32478837; PubMed Central PMCID: PMC7393611.