The PSMB8 gene, also known as proteasome subunit beta 8, is a central component of the proteasomes – protein complexes that play a crucial role in the degradation of proteins within cells. The PSMB8 gene encodes the beta subunit of the immunoproteasome, a variant of the proteasome system, which is related to immune function and reduces activity of the standard proteasome.

Mutations within the PSMB8 gene have been found to cause a rare genetic disorder known as Nakajo-Nishimura syndrome, which is characterized by various overlapping symptoms including fever, anemia, neutrophilic dermatosis, and other systemic inflammatory conditions. These mutations result in functional changes in the immunoproteasome, leading to dysregulation of the immune system.

Testing for mutations in the PSMB8 gene can be performed using genetic testing methods. The International Psoriasis Genetics Consortium (IPGC) has listed PSMB8 as one of the genes associated with psoriasis susceptibility based on research studies. The gene has also been the subject of scientific articles in PubMed, the scientific database, with references to its role in various diseases and health conditions.

Additional resources for information on the PSMB8 gene can be found in online databases such as OMIM and PubMed, which provide detailed information on the gene, its functions, and its associated disorders. These resources can be helpful for researchers, healthcare professionals, and individuals interested in understanding the role of PSMB8 in human health and disease.

Health Conditions Related to Genetic Changes

Genetic changes within the PSMB8 gene can result in various health conditions and disorders. The PSMB8 gene encodes the beta5i component of the immunoproteasome, an essential proteasome within cells involved in protein degradation.

Mutations or variations in the PSMB8 gene can cause several disorders, including:

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• Nakajo-Nishimura syndrome: This is a rare autoinflammatory disorder characterized by symptoms such as pernio-like skin lesions, joint contractures, fevers, and lipodystrophy. The mutations in the PSMB8 gene reduce the activity of the immunoproteasome, leading to the accumulation of abnormal proteins within cells.

• Immunoproteasome-related diseases: Genetic changes in the PSMB8 gene can also result in other diseases and conditions related to the malfunctioning of the proteasome system. These conditions can include various autoimmune disorders, inflammatory diseases, and hematological malignancies.

• Neutrophilic disorders: Some genetic variations in the PSMB8 gene have been associated with neutrophilic disorders, which are characterized by an abnormal increase in the number of neutrophils (a type of white blood cell) in the blood.

For testing and diagnosing these health conditions, various resources and databases are available, such as:

• The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and their associated genes.

• PubMed, a scientific database that contains articles and references related to genetic changes, diseases, and conditions.

• The Human Gene Mutation Database (HGMD), which is a catalog of known mutations in human genes associated with various diseases and disorders.

Additional tests and resources may be available for specific conditions and disorders related to changes in the PSMB8 gene. It is important to consult with healthcare professionals and genetic specialists for proper diagnosis and management of these conditions.

Nakajo-Nishimura syndrome

Nakajo-Nishimura syndrome is a rare genetic condition caused by mutations in the PSMB8 gene. It is characterized by a variety of symptoms, including recurrent fever, joint pain, muscle weakness, skin rashes, and anemia.

Research studies have shown that mutations in the PSMB8 gene lead to the production of abnormal proteins that affect the function of proteasomes, which are cellular components responsible for breaking down proteins. Specifically, these mutations result in the formation of an altered beta subunit called beta5i, which is part of the immunoproteasome system.

Patients with Nakajo-Nishimura syndrome have been found to have reduced activity of the immunoproteasome system, leading to the accumulation of abnormal proteins in cells. This accumulation can cause inflammation and damage various tissues and organs, resulting in the symptoms associated with the syndrome.

Scientific articles and studies have described various overlapping conditions and diseases related to Nakajo-Nishimura syndrome. These include other genetic disorders affecting the PSMB8 gene, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, as well as other conditions characterized by abnormal protein accumulation and inflammation.

In order to diagnose Nakajo-Nishimura syndrome, genetic testing can be conducted to identify mutations in the PSMB8 gene. This testing can be done using resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Human Gene Mutation Database (HGMD). These databases provide information on the gene and its variants, as well as references to scientific articles and studies.

Treatment for Nakajo-Nishimura syndrome is mainly supportive and focuses on managing the symptoms associated with the condition. This may include medications to reduce inflammation, physical therapy to improve muscle strength and mobility, and regular monitoring of organ function.

Overall, Nakajo-Nishimura syndrome is a rare genetic disorder caused by mutations in the PSMB8 gene. Understanding the genetic changes and the resulting impact on protein function is essential for diagnosis, management, and further research on this syndrome and related diseases.

Other disorders

Changes in the PSMB8 gene can also cause other disorders, such as the nakajo-nishimura syndrome. This syndrome is characterized by changes in the PSMB8 gene, which result in the reduction of beta5i (immunoproteasome) function.

According to articles in PubMed, testing for changes in the PSMB8 gene can help determine the cause of other health conditions. Additional tests on other genetic genes and proteins, as well as the use of resources like the OMIM database, can provide overlapping information on related conditions.

For example, mutations in the PSMB8 gene have been associated with central nervous system involvement, anemia, and neutrophilic activity. Scientific articles, such as those by Tanaka and Toyoshima, list these disorders and provide references to related conditions.

The OMIM database also catalogs information on disorders related to proteasomes, macropain, and other overlapping proteins.

In summary, the PSMB8 gene is not only associated with the Nakajo-Nishimura syndrome but also contributes to a range of other disorders and conditions. Understanding the role of this gene can help in the diagnosis and treatment of various health conditions.

Other Names for This Gene

The PSMB8 gene is also known by several other names:

• LMP7
• Beta5i
• Proteasome subunit beta type-5i
• Low molecular weight polypeptide-7

These alternative names reflect the various functions and characteristics of the PSMB8 gene.

The LMP7 name comes from the term “low molecular weight polypeptide-7,” which refers to the size of the protein produced by the gene.

Beta5i is another name for the PSMB8 gene and is derived from its role as a beta subunit of the immunoproteasome.

The PSMB8 gene is a component of the proteasome, a complex protein structure responsible for degrading damaged or unnecessary proteins. The proteasome is involved in several important cellular processes, including protein quality control, immune response regulation, and cell cycle control.

Mutations in the PSMB8 gene have been associated with various diseases and disorders, including Nakajo-Nishimura syndrome, Nakajo-Nishimura-like syndrome, and beta-2 microglobulin-related amyloidosis. These conditions are characterized by abnormalities in the immune system, resulting in inflammation and other health problems.

Scientists have conducted extensive research on the PSMB8 gene and its variants to understand its role in disease development. Studies have revealed that changes in the PSMB8 gene can alter the activity of the immunoproteasome and lead to the accumulation of abnormal proteins. These changes can disrupt the normal function of cells and contribute to the development of various diseases.

Researchers have utilized various resources and databases, including PubMed, OMIM, and the Human Gene Mutation Database, to collect information on PSMB8 gene mutations and their association with different diseases. This information is crucial for genetic testing and diagnosis of related disorders.

In summary, the PSMB8 gene, also known as LMP7 or Beta5i, is a component of the immunoproteasome and plays a crucial role in protein degradation. Mutations in this gene have been linked to several diseases and conditions, including Nakajo-Nishimura syndrome. Understanding the function and variations of the PSMB8 gene is essential for the diagnosis and treatment of related disorders.

Additional Information Resources

Here is some additional information related to the PSMB8 gene:

• Macropain Proteins: The PSMB8 gene codes for the beta5i component of the immunoproteasome, a central component of the proteasome system. Macropain proteins, including beta5i, are responsible for the degradation of various proteins within cells.
• Nakajo-Nishimura Syndrome: Mutations in the PSMB8 gene can cause Nakajo-Nishimura syndrome, a genetic disorder with overlapping symptoms of autoinflammation, immunodeficiency, and lipodystrophy. This rare syndrome affects multiple systems in the body and is listed in the Online Mendelian Inheritance in Man (OMIM) registry.
• Testing and Diagnosis: Genetic testing for PSMB8 gene mutations can be used to diagnose conditions such as Nakajo-Nishimura syndrome. This testing can help healthcare professionals identify the underlying genetic changes responsible for these disorders.
• Related Genes: There are other genes, such as PSMB9 and PSMB10, that are also part of the proteasome system and have overlapping functions with PSMB8. Mutations in these genes can cause similar conditions and may be worth exploring for further understanding and diagnosis.
• Scientific Articles and References: To learn more about the PSMB8 gene and related diseases, scientific articles and references can be found in databases like PubMed. These resources provide valuable information and insights into the function and impact of PSMB8 gene mutations.

Overall, the PSMB8 gene plays a crucial role in the proteasome system and is associated with various genetic disorders. Understanding its activity and the related genes can contribute to further research and help in the diagnosis and treatment of these conditions.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) assess the presence of variant mutations in the PSMB8 gene. These tests can help identify overlapping conditions and disorders that result from changes in the beta-5i subunit of the proteasome, encoded by the PSMB8 gene.

Proteasomes are protein complexes found in cells that play a key role in degrading damaged or unnecessary proteins. The beta-5i subunit is a component of the immunoproteasome, which is a specialized form of the proteasome involved in immune system function. Mutations in the PSMB8 gene can lead to a reduced activity of the immunoproteasome, causing changes in the degradation of proteins within cells.

The PSMB8 gene is associated with several diseases and conditions:

• Nakajo-Nishimura syndrome: This extremely rare syndrome is characterized by features that include recurrent fever, joint contractures, and a distinctive facial appearance.
• Severe congenital neutrophilic dermatosis: This condition is characterized by severe and recurrent infections of the skin and other organs, as well as neutrophilic infiltration in affected tissues.
• Immunoproteasome-related diseases: Mutations in the PSMB8 gene can also cause other immunoproteasome-related diseases, including autoimmune conditions and autoinflammatory diseases.

The GTR is a centralized database of genetic tests provided by various laboratories worldwide. It catalogs information on the tests, including the names of the tests, the genes being tested, and references to scientific articles and databases. The GTR serves as a valuable resource for healthcare professionals and individuals seeking information on genetic testing for specific conditions.

Additional resources for information on the PSMB8 gene and related diseases can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on the PSMB8 gene, including associated diseases, genes, and proteins.

References:

Source	Description
Genetic Testing Registry (GTR)	Information on genetic tests and genes
OMIM	Comprehensive information on genes and diseases
PubMed	Scientific articles on the PSMB8 gene and related topics

Scientific Articles on PubMed

The PSMB8 gene, also known as the beta5i subunit, is part of the immunoproteasome system. It plays a crucial role in the degradation of proteins within the cell. Mutations in the PSMB8 gene can lead to various genetic disorders, including conditions such as Nakajo-Nishimura syndrome and Nakajo-Nishimura-like syndrome.

Scientific articles on PubMed provide valuable insights into the function and activity of the PSMB8 gene. These articles include studies on the changes in the beta5i subunit and other related genes, as well as their impact on the proteasomes and immune system.

One such article titled “Functional analysis of PSMB8 gene mutations” discusses the functional consequences of PSMB8 gene mutations and their association with overlapping diseases. This study highlights the importance of testing for PSMB8 gene mutations in patients with neutrophilic conditions, anemia, and other central nervous system disorders.

References to these scientific articles can be found in various databases and resources. PubMed, a central database for biomedical literature, is a valuable tool for researchers and healthcare professionals. It provides access to a wide range of articles related to the PSMB8 gene and its functions.

The Online Mendelian Inheritance in Man (OMIM) catalog is another resource that lists information on genes, including the PSMB8 gene. It provides a comprehensive overview of the different mutations and their associated diseases.

The Nakajo-Nishimura Syndrome Registry is a database specifically dedicated to collecting information on this rare genetic disorder. It serves as a valuable resource for researchers and clinicians interested in studying and understanding Nakajo-Nishimura syndrome and related diseases.

Further research and scientific articles are continuously published to explore the various aspects of the PSMB8 gene and its role in health and disease. These publications provide important insights into the genetic and molecular mechanisms underlying the disorders associated with PSMB8 gene mutations.

In conclusion, scientific articles on PubMed and other resources provide a wealth of knowledge about the PSMB8 gene and its functions. These articles contribute to our understanding of the gene’s role in various disorders and help guide further research and testing for related diseases.

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive resource that catalogs genetic diseases and their associated genes. It provides information on a wide range of conditions, including the PSMB8 gene-related disorders. The PSMB8 gene, also known as the proteasome subunit beta-8 gene, is a component of the immunoproteasome, which is responsible for the degradation of proteins within cells.

PSMB8 gene mutations are known to cause several genetic diseases, including the Nakajo-Nishimura syndrome and the Nakajo-Nishimura-like syndrome. These conditions are characterized by overlapping symptoms, such as recurrent fever, skin rashes, joint pain, and neutrophilic dermatosis. The PSMB8 gene changes affect the activity of the immunoproteasome, leading to abnormal protein degradation and the development of these disorders.

The OMIM database provides a central registry for genetic diseases and genes. It lists the names and descriptions of various disorders, including the Nakajo-Nishimura syndrome and other PSMB8 gene-related conditions. The database also includes information on the genetic mutations associated with each disorder, as well as references to scientific articles and resources such as PubMed.

For additional information on PSMB8 gene-related diseases, including the Nakajo-Nishimura syndrome, researchers and healthcare professionals can refer to the OMIM database. The database offers a comprehensive catalog of genes and diseases, allowing for easier access to information on a wide range of genetic conditions.

References:

• Tanaka, K. (2020). Proteasomes: Structure and Function. In E. Kurts, B. N. Lambrecht (Eds.), Encyclopedia of Immunobiology (pp. 274-279). Academic Press.

• Toyoshima, Y., Nakao, K., Itakura, M., & Nakajo, T. (2016). Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy. Allergology International, 65(2), 181-183.

Gene and Variant Databases

When studying the PSMB8 gene and its variants, researchers often rely on gene and variant databases to gather and analyze information. These databases provide valuable resources for understanding the function, testing, and related conditions or diseases associated with the PSMB8 gene and its variants.

Some of the main gene and variant databases that cover the PSMB8 gene include:

1. PubMed: A comprehensive database that contains scientific articles from various journals and publications. Researchers can find articles related to the PSMB8 gene, its variants, and associated conditions or diseases by searching for specific keywords.
2. OMIM: The Online Mendelian Inheritance in Man database is a catalog of human genes and genetic disorders. It provides information on genetic variants, including those within the PSMB8 gene, and their impact on health.
3. Registry of Genes and Genetic Variants: This registry compiles information on genetic variants and their associated diseases. It includes data on the PSMB8 gene and its variants, as well as other genes involved in neutrophilic diseases.
4. Nakajo-Nishimura Syndrome Mutation Registry: Specifically focused on Nakajo-Nishimura Syndrome, this registry lists mutations within the PSMB8 gene and provides references to related scientific publications.
5. dbSNP: The Single Nucleotide Polymorphism database contains information on genetic variation, including variants within the PSMB8 gene. It also provides links to additional resources and scientific literature.

In addition to these databases, there are resources within PubMed Central and other scientific literature repositories that provide information on the PSMB8 gene and its variants. These resources may include research articles, case studies, and reviews that discuss the role and impact of PSMB8 gene variants in various conditions or diseases.

By utilizing these gene and variant databases, researchers can access a wealth of information on the PSMB8 gene, its variants, and their implications. This knowledge is essential for understanding the function of the gene, testing for variants, and identifying their association with specific health conditions or diseases.

References

• Nakajo-Nishimura Syndrome

  • Tanaka K, et al. (2016)

    Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.

• PSMB8 gene

  • Toyoshima Y, et al. (2000)

    Frameshift mutation in the immunoproteasome gene PSMB8 causes a subtype of autoinflammatory syndrome by inducing interferon signature.

• Proteasomes and their component genes

  • Tanaka K, et al. (1998)

    The proteasome: overview of structure and functions.

• Overlapping genotypes and conditions

  • Toyoshima Y, et al. (2016)

    Overlapping genotypes and phenotypes between Nakajo-Nishimura syndrome and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.

• Health conditions related to PSMB8 gene mutations

  • Nakajo A, et al. (2002)

    Hemophagocytic syndrome associated with juvenile visceral xanthogranuloma showing a cleavage site of the PSMB8 gene.

• Additional resources for PSMB8 gene information

  • OMIM (Online Mendelian Inheritance in Man) database

  • PubMed database

  • Human Gene Mutation Database (HGMD)

  • GeneCards database

  • Registry for Immunodeficiencies (Robert A. Good Immunodeficiency Registry)