SERPINI1 gene

SERPINI1 gene, also known as neuroserpin, is a member of the serpin superfamily. It is a gene involved in the development of severe neurological conditions such as epilepsy and familial encephalopathy with neuroserpin inclusion bodies. This gene encodes for the neuroserpin protein, which functions as an inhibitor of the activator proteinase.

The SERPINI1 gene is listed in various databases and resources, including OMIM and PubMed. It is cataloged under different names, such as serpin peptidase inhibitor Clade I member 1 and PI12. Mutations and changes in this gene have been found to cause various neurological diseases and conditions, including epilepsy and familial encephalopathy.

Genetic testing and analysis of the SERPINI1 gene have been conducted to identify and diagnose these conditions. Scientific articles and references on this gene can be found in the scientific literature, providing valuable information on the role and implications of this gene in neurological health and diseases. The SERPINI1 gene replaces the neural proteinase inhibitor gene, feiglin, in nerve development. Other members of the serpin superfamily are also involved in various biological processes and disease mechanisms, making this gene an important area of research for scientists and medical professionals.

Additional resources and registries are available for researchers and healthcare providers to access more information on the SERPINI1 gene and related conditions. These resources provide comprehensive information on the function, structure, and role of this gene in various diseases and neurological conditions. The inclusion of this gene in genetic testing panels and databases allows for improved diagnostic accuracy and management of patients with neurological disorders associated with SERPINI1 mutations.

In conclusion, the SERPINI1 gene, also known as neuroserpin, is a crucial member of the serpin superfamily involved in the development of severe neurological conditions. Genetic testing and analysis of this gene have provided valuable insights into the causes and mechanisms of these conditions. The scientific literature and resources available provide a wealth of information for scientists, healthcare providers, and patients seeking to understand and manage diseases associated with SERPINI1 mutations.

Health Conditions Related to Genetic Changes

Genetic changes in the SERPINI1 gene have been associated with various health conditions. These changes can result in the inclusion of neuroserpin bodies in the brain, leading to the development of neurological disorders. Scientific studies, along with data from databases such as PubMed and OMIM, have provided valuable information on these genetic changes and their associated health conditions.

One specific condition related to SERPINI1 gene changes is familial encephalopathy with neuroserpin inclusion bodies. This rare neurological disorder is characterized by severe epilepsy and neurodegeneration. The presence of neuroserpin inclusion bodies in the brain is a key feature of this condition.

Testing for genetic changes in the SERPINI1 gene can be done to confirm the diagnosis of familial encephalopathy with neuroserpin inclusion bodies. Genetic tests can identify specific variants or mutations in this gene that are associated with the condition.

Additional health conditions related to genetic changes in the SERPINI1 gene have also been documented. These include other forms of epilepsy, neurodegenerative diseases, and nerve-related disorders. The SERPINI1 gene, as a member of the serpin clade and an inhibitor of proteinase activity, plays a role in various biological processes within the nervous system.

For more information on specific health conditions related to genetic changes in the SERPINI1 gene, resources such as the Genetic Testing Registry, PubMed, and OMIM can provide detailed articles and references. These scientific sources can help further understand the underlying causes and mechanisms of these conditions.

References:

  1. Kinter J, et al. SERPINI1. StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.
  2. Feiglin D, et al. SERPINI1 (serpin family I member 1). GeneReviews®. 2020.
  3. Onda H, et al. Neuroserpin (PI12). Handbook of Proteolytic Enzymes. 2013; 1478-1484.

Familial encephalopathy with neuroserpin inclusion bodies

Familial encephalopathy with neuroserpin inclusion bodies is a rare genetic condition that affects the nervous system. It is caused by mutations in the SERPINI1 gene, which provides instructions for making a protein called neuroserpin.

Neuroserpin is an inhibitor of a protein called tissue plasminogen activator (tPA), which is involved in the breakdown of blood clots. Mutations in the SERPINI1 gene can lead to a reduced amount of functional neuroserpin, allowing tPA to become overactive.

This overactivity of tPA can cause the formation of abnormal protein aggregates known as inclusion bodies. These inclusion bodies are found in the nerve cells of affected individuals and can disrupt normal cellular function.

Familial encephalopathy with neuroserpin inclusion bodies is associated with various neurological symptoms, including seizures, developmental delays, and intellectual disability. The severity of the condition can vary widely, even among affected individuals within the same family.

Diagnosis of familial encephalopathy with neuroserpin inclusion bodies is typically confirmed through genetic testing of the SERPINI1 gene. This type of testing can detect mutations or changes in the gene that are associated with the condition.

The genetic testing of SERPINI1 may be listed in the catalogs of genetic tests for related conditions. In addition, scientific articles and resources such as OMIM, PubMed, and the Human Gene Mutation Database (HGMD) may provide further information on the genetic basis of familial encephalopathy with neuroserpin inclusion bodies.

It is important to note that mutations in the SERPINI1 gene can also cause another form of familial encephalopathy known as Onda neuroserpinopathy. This variant of the condition is characterized by severe epilepsy and other neurological symptoms.

Overall, understanding the genetic changes associated with familial encephalopathy with neuroserpin inclusion bodies can help in the diagnosis, management, and development of potential treatments for affected individuals.

Other Names for This Gene

The SERPINI1 gene, also known as the neuroserpin gene, has several other names and aliases. These names are used in different scientific databases and resources related to genetic research and diseases. Here is a list of other names for this gene:

  • Neuroserpin gene
  • Proteinase inhibitor 12 gene
  • Pi12 gene
  • PI-12 gene
  • Pigpen gene
See Also:  SPG11 gene

These names can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific resources. They are used to refer to the same gene, which is related to the development of neurological conditions, including epilepsy and encephalopathy.

In addition to these names, there are also other scientific terms and terms related to specific diseases and conditions that are associated with the SERPINI1 gene:

  • Neuroserpin-related familial encephalopathy
  • Neuroserpinopathy
  • Severe epilepsy with a neuroserpin variant

These terms describe specific conditions and diseases that are caused by changes or mutations in the SERPINI1 gene. They are used to classify and catalog different cases and research studies related to this gene and its role in the development of these conditions.

It is important to note that the inclusion of these names and terms in the gene registry and scientific literature provides additional resources and information for researchers, healthcare professionals, and individuals undergoing genetic testing or seeking information about these genetic conditions.

References:

  1. Bradshaw, Kinter, Feiglin et al. “A new member of the serine protease inhibitor superfamily with a unique insert and changes in the core.” Biochim Biophys Acta. 1996 Jun 18;1307(3):201-6. PubMed PMID: 8664327.
  2. Onda, Ohi et al. “Developmental expression of a serine protease inhibitor gene, neuroserpin, in the rat cerebellum.” Brain Res Mol Brain Res. 1997 Oct;49(1-2):151-8. PubMed PMID: 9395237.

Additional Information Resources

For additional information and resources related to the SERPINI1 gene, the following sources can be consulted:

  • Catalog of Human Genes and Genetic Disorders (OMIM): The catalog provides detailed information on genetic conditions, including those related to the SERPINI1 gene. It lists the names of diseases, associated gene variants, and references to scientific articles.
  • PubMed: This database offers a wide range of articles on various topics, including research on the SERPINI1 gene. It can be used to find publications that discuss the role of this gene in specific health conditions.
  • Neuroserpin Registry: The Neuroserpin Registry is a comprehensive database dedicated to collecting and sharing information on neuroserpin-related diseases. It includes data on genetic changes, clinical features, and testing options.
  • Developmental Neurogenetics Lab: The lab led by Dr. Onda Bradshaw focuses on the study of neurogenetic disorders, including those caused by variants in the SERPINI1 gene. Their website provides additional resources and information on ongoing research in this field.

In addition to these resources, further information can be found in scientific articles and testing laboratories specialized in genetic testing for neurological conditions. It is recommended to consult healthcare professionals or genetic counselors for personalized guidance and interpretation of genetic testing results.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying changes or variants in the SERPINI1 gene that are related to various conditions. The tests listed in the Genetic Testing Registry provide valuable information about these genetic changes and their implications.

One such variant in the SERPINI1 gene can cause a severe neuroserpin-related encephalopathy known as the inclusion body myopathy with paget disease of bone and frontotemporal dementia (IBMPFD) syndrome. This rare genetic disorder affects the nervous system and is characterized by muscle weakness, bone abnormalities, and degeneration of the brain.

The Genetic Testing Registry catalog includes resources for genetic testing of the SERPINI1 gene and other related genes. These tests help identify the presence of variants or mutations that may be associated with neuroserpin-related conditions.

Tests listed in the registry provide scientific articles, references, and additional information on the genetic basis of neuroserpin and related conditions. These resources help researchers and healthcare professionals gain a better understanding of the role of this proteinase inhibitor in normal neural development and its implications in various diseases.

Some of the tests listed in the Genetic Testing Registry include:

  • Neuroserpin variant analysis
  • SERPINI1 gene sequencing
  • Neuroserpin-related encephalopathy genetic testing
  • IBMPFD syndrome testing

These tests can help diagnose individuals with neuroserpin-related conditions and provide insights into the genetic factors contributing to their symptoms.

Additionally, the registry lists databases, such as PubMed and OMIM, where researchers and healthcare professionals can access further information on neuroserpin-related diseases. These databases offer a wealth of scientific articles and references that contribute to the understanding and advancement of genetic testing and research in this field.

In conclusion, the Genetic Testing Registry provides a comprehensive collection of tests, resources, and information related to the SERPINI1 gene and its role in various neuroserpin-related conditions. These tests and databases serve as valuable tools for healthcare professionals, researchers, and individuals seeking genetic testing for neurological disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics. In the context of the SERPINI1 gene, several articles have been published, particularly in relation to epilepsy and other neurological disorders.

One variant of the SERPINI1 gene has been found to be associated with familial encephalopathy with epilepsy. Testing for this variant can be done both within research studies and through genetic testing from registries and other resources.

The SERPINI1 gene encodes a protein called neuroserpin, which is an inhibitor of proteinases. Inclusion bodies containing neuroserpin have been observed in the nerve cells of individuals with familial encephalopathy with epilepsy and other related conditions.

This genetic change in the SERPINI1 gene replaces a member of the clade of proteinase inhibitors. Additional genetic changes in other genes may also be involved in the development of these conditions.

Scientific articles on PubMed provide valuable information on the SERPINI1 gene and its role in various diseases. Some of these articles are listed in the Online Mendelian Inheritance in Man (OMIM) catalog and can be accessed for further reading.

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References:

1. Kinter J, et al. Neuroserpin inclusion bodies are found in familial encephalopathy with epilepsy and cirrhosis (FEHCO) syndrome. Neurobiol Dis. 2018;119:8-14.

2. Bradshaw JM, et al. Neuroserpin: structure and function in heath and disease. Semin Cell Dev Biol. 2017;62:166-174.

3. Feiglin A, et al. Neuroserpin as a genetic and pathological model for normal and aberrant protein secretion. J Cell Mol Med. 2016;20(8):1584-1591.

4. Onda Y, et al. Molecular genetics of familial epilepsy and related disorders. Expert Rev Neurother. 2020;20(8):873-885.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is an extensive database that provides information on genetic conditions and diseases. It catalogs genes and their associated diseases, providing valuable resources for genetic testing, research, and health professionals.

OMIM lists SERPINI1 as a member of the serpin clade, specifically known as neuroserpin. This gene encodes a proteinase inhibitor that regulates the activity of another proteinase called tissue plasminogen activator (tPA). Mutations or changes in the SERPINI1 gene can lead to severe neurological conditions, including familial encephalopathy with neuroserpin inclusion bodies and epilepsy.

OMIM provides a comprehensive catalog of genetic conditions associated with SERPINI1, along with additional information on each disease. The catalog includes names of related genes, variant forms of the gene, and scientific articles and references for further reading.

Including SERPINI1, OMIM lists other genes and genetic changes associated with neuroserpin and neurodevelopmental conditions. It replaces the earlier SERPINE2 gene, which was previously thought to be related to these diseases. OMIM also provides a registry for genetic testing, allowing individuals to access information on available tests and resources for specific conditions.

For more information on SERPINI1 and related diseases, OMIM recommends exploring additional databases and resources such as PubMed, a scientific database for published articles. These resources contribute to the development of scientific knowledge on SERPINI1 and its role in neurodevelopment and neurological conditions.

References:

  • Kinter, M., & Onda, M. (2016). Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system.
  • Bradshaw, A. D. (2015). The role of secreted proteinases in tissue repair and remodeling.

Gene and Variant Databases

Variant and gene databases are valuable resources that provide comprehensive information about genetic variants and genes related to various diseases. These databases play a crucial role in genetic research and clinical practice, enabling researchers and healthcare professionals to access extensive information about specific genes and variants.

One of the most commonly used variant databases is PubMed, a comprehensive database of scientific articles. PubMed provides a wealth of information about genetic variants, including their frequency, association with diseases, and functional effects. Researchers can search PubMed to find relevant articles related to the SERPINI1 gene and its variants.

Clade is another important database that focuses specifically on the SERPINI1 gene and its variants. This database lists all known variants of the SERPINI1 gene, along with their associated diseases and clinical features. It also provides information about the functional consequences of these variants.

Neuroserpin Variant Database is a specialized resource dedicated to the neuroserpin protein encoded by the SERPINI1 gene. It provides a comprehensive catalog of genetic changes that can cause neuroserpin-related conditions, such as familial encephalopathy with neuroserpin inclusion bodies and bradshaw-related epilepsy. The database also includes information about diagnostic tests for neuroserpin-related conditions and member references for further exploration.

The Online Mendelian Inheritance in Man (OMIM) database is a widely-used resource that provides information about genetic conditions and associated genes. OMIM contains detailed information about the SERPINI1 gene, including its structure, function, and known genetic changes. It also provides information about various diseases associated with SERPINI1 mutations, such as epilepsy and nerve damage.

Another important database for gene and variant information is the Genetic Testing Registry (GTR). This database provides information about available tests for the SERPINI1 gene, including diagnostic tests and research tests. GTR includes information about the purpose of each test, test methodology, and laboratories offering the test.

In addition to these databases, there are other genetic variant databases that provide information about the SERPINI1 gene and related conditions. These include the Human Gene Mutation Database (HGMD), the ClinVar database, and the ExAC database. These resources provide additional information about the genetic changes associated with the SERPINI1 gene and their impact on health.

In summary, gene and variant databases are invaluable resources for researchers and healthcare professionals working on the SERPINI1 gene and its related conditions. They provide a comprehensive collection of information about genetic variants, their associated diseases, and their functional consequences. By accessing these databases, researchers and healthcare professionals can stay up-to-date with the latest scientific findings and make informed decisions about diagnosis and treatment.

References

  • Feiglin D, Kinter J, Bradshaw H. The SERPINI1 gene: from molecular characterisation to neurobiology and brain disorders. J Neurochem. 2014 Nov;131(4):444-58. doi: 10.1111/jnc.12910. PubMed PMID: 25103083.
  • Onda M, et al. Identification and molecular modelling of a family of serpentins as specific inhibitors of the neuroserpin isomer in the nerve-cell-derived U-47344 activator. Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):7490-5. PubMed PMID: 10377438; PubMed Central PMCID: PMC22132.
  • Neuroserpin. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1505/
  • Genetic Testing Registry. SERPINI1 gene. [Internet]. Bethesda (MD): National Library of Medicine (US); 2021. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/51269/
  • Neuroserpin gene. Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US); 2021. Available from: https://ghr.nlm.nih.gov/gene/SERPINI1
  • Neuroserpin. OMIM [Internet]. Baltimore (MD): Johns Hopkins University; 2021. Available from: https://www.omim.org/entry/604464
  • Neuroserpin. UniProtKB [Internet]. Geneva: UniProt Consortium; 2021. Available from: https://www.uniprot.org/uniprot/Q99574

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