The CSTB gene, also known as cystatin B, is a gene that provides instructions for making a protein called cystatin B. This protein is part of a family of proteins called cystatins, which help regulate the activity of enzymes involved in many processes in the body. The CSTB gene is located on the short (p) arm of chromosome 21 at position 22.3.

Changes (variants) in the CSTB gene can cause a condition called Unverricht-Lundborg disease (EPM1), which is a rare form of progressive myoclonus epilepsy. This disease is characterized by repeated, involuntary muscle jerks (myoclonus), seizures, and other neurological symptoms. Variants in the CSTB gene can result in a dodecamer repeat sequence, in which a segment of DNA consisting of 12 DNA building blocks (nucleotides) is repeated several times. The number of these repeats can vary among affected individuals.

Additional information about the CSTB gene and its protein can be found in various databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, genetic testing information, and references on diseases related to the CSTB gene. The CSTB gene is also listed in the GeneTests Genetic Testing Registry, which provides information on available genetic tests for this gene.

In conclusion, the CSTB gene plays a role in the development of Unverricht-Lundborg disease, a form of epilepsy. Changes in this gene can lead to the production of a variant protein that causes the symptoms associated with this condition. Scientists continue to study the CSTB gene and its protein to better understand its function and potential therapeutic targets for treating related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the CSTB gene are associated with various health conditions. These changes can be identified and studied through scientific databases and resources.

One disease related to genetic changes in the CSTB gene is called Unverricht-Lundborg disease. This disease is characterized by the buildup of a protein called cystatin B. Cystatin B is one of the proteins listed as a cystatin, which are a family of cysteine protease inhibitors.

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Scientific databases like PubMed and OMIM provide a number of references and articles on the genetic changes and related diseases. These resources provide information on testing and other diagnostic tools for the detection of genetic changes in the CSTB gene.

In the case of Unverricht-Lundborg disease, an expansion of a dodecamer repeat sequence in the CSTB gene leads to the production of abnormal protein copies. This results in the buildup of cystatin B protein and the development of the disease.

Additional genetic changes in the CSTB gene have been identified in other related epilepsy conditions, such as EPM1. These changes can be studied and cataloged in scientific databases and registries, providing valuable information for researchers and healthcare professionals.

Disease Name	Description
Unverricht-Lundborg disease	An epilepsy condition characterized by the buildup of cystatin B protein.
EPM1	Another epilepsy condition associated with genetic changes in the CSTB gene.

Overall, genetic changes in the CSTB gene can lead to various health conditions, particularly related to epilepsy. Scientific databases, articles, and registries provide valuable resources for understanding and studying these genetic changes and associated diseases.

Unverricht-Lundborg disease

Unverricht-Lundborg disease is a genetic condition characterized by myoclonus – brief, shock-like muscle contractions that can affect the arms and legs. The disease is also known as EPM1 (epilepsy, progressive myoclonus type 1) and is caused by mutations in the CSTB gene.

The CSTB gene provides instructions for making a protein called cystatin B. This protein helps regulate the activity of enzymes called cathepsins, which break down proteins in the body. Mutations in the CSTB gene result in an abnormal form of cystatin B, which impairs its ability to regulate cathepsin activity.

Unverricht-Lundborg disease is listed in various resources for genetic diseases, including the Online Mendelian Inheritance in Man (OMIM) database and PubMed. The OMIM database provides detailed information about genetic conditions, including descriptions, references, and related genes. PubMed is a scientific database that contains articles and references on various scientific topics, including genetics and diseases.

Testing for Unverricht-Lundborg disease can involve analyzing the CSTB gene for mutations. This can be done through DNA sequencing techniques that identify changes in the gene’s sequence. Additionally, testing can also involve analyzing the repeat sequence in the CSTB gene, known as the dodecamer repeat, for the presence of additional copies. This repeat expansion is a common variant in individuals with Unverricht-Lundborg disease.

Genetic testing for Unverricht-Lundborg disease may be recommended for individuals with symptoms of myoclonus and epilepsy. The disease is more commonly found in individuals of Finnish descent, but cases have been reported in other populations as well.

Resources such as the OMIM database and PubMed can provide additional information on Unverricht-Lundborg disease, including scientific articles and references. This can be helpful for individuals and healthcare providers looking for more information and resources on this genetic condition.

Other Names for This Gene

This gene is also known by the following names:

• Unverricht-Lundborg disease protein
• Cystatin B
• EPM1 protein
• CSTB
• Darcel protein

These names may be referenced in scientific articles and databases related to genetic testing, diseases like epilepsy and myoclonus, and other conditions. The protein sequence of this gene and any changes or variants in it can be listed in databases like OMIM and GenBank. Additional information on this gene can be found in resources such as PubMed and GeneRIF, which provide related articles and references on the topic.

Additional Information Resources

For additional information on the CSTB gene and related proteins, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic conditions. It provides detailed information on the CSTB gene, other genes associated with myoclonus epilepsy, and related diseases.
• PubMed: A database of scientific articles. You can find research papers and studies related to the CSTB gene, its functions, and its role in diseases.
• Genetic Testing Registry: A database of genetic tests available for various health conditions. It provides information on genetic tests available for CSTB gene variants and related diseases.
• EPM1 Unverricht-Lundborg Disease Mutation Database: A database specifically dedicated to mutations in the CSTB gene associated with Unverricht-Lundborg disease. It lists the different genetic changes found in this gene.
• Darcel Dodecamer Repeat Sequence: This is the specific repeat sequence in the CSTB gene that is known to be involved in Unverricht-Lundborg disease. It is helpful in genetic testing and diagnostic procedures.

These resources provide a wealth of information on the CSTB gene, its role in diseases like Unverricht-Lundborg disease, the related proteins, and the genetic tests available for diagnosing these conditions. They can help researchers, healthcare professionals, and individuals interested in this field to access the latest research, references, and clinical information.

Tests Listed in the Genetic Testing Registry

Genetic testing involves the analysis of an individual’s DNA sequence to identify genetic changes associated with diseases or conditions. In the case of the CSTB gene, testing is performed to identify changes in this gene that are associated with certain conditions, such as Unverricht-Lundborg disease and epilepsy.

The CSTB gene provides instructions for making a protein called cystatin B. This protein helps regulate the activity of other proteins in the body. Changes in the CSTB gene can lead to the production of an abnormal cystatin B protein, which disrupts the normal functioning of cells and can contribute to the development of neurological diseases.

The Genetic Testing Registry (GTR) lists various tests related to the CSTB gene. These tests are designed to detect specific genetic changes or variant sequences in this gene that are associated with diseases or conditions. The GTR provides information on the tests available, including their purpose, methodology, and the diseases or conditions they are used to diagnose.

Listed below are some of the tests related to the CSTB gene that are available in the GTR:

• Repeat Expansion Analysis of the CSTB Gene for Unverricht-Lundborg Disease:
• This test detects the presence of extra copies of a dodecamer repeat sequence within the CSTB gene. Unverricht-Lundborg disease is caused by an expansion of this repeat sequence, leading to the production of abnormal cystatin B protein.
• References: OMIM: 254800, PUBMED: 11756600
• Testing for Genetic Changes in the CSTB Gene for Myoclonus Epilepsy:
• This test examines the sequence of the CSTB gene to identify specific variant changes that are associated with myoclonus epilepsy. Myoclonus epilepsy is characterized by sudden, brief muscle jerks or twitches.
• References: OMIM: 254800, PUBMED: 11756600

In addition to these specific tests, the GTR also provides additional resources and information related to the CSTB gene and associated diseases. These resources include links to other genetic databases, scientific articles, and health catalogs that provide further information on the gene and its role in neurological disorders.

Overall, the GTR serves as a valuable resource for individuals and healthcare professionals seeking genetic testing for the CSTB gene. By providing a comprehensive catalog of available tests and related information, the GTR helps facilitate the diagnosis and management of diseases associated with this gene.

Scientific Articles on PubMed

The CSTB gene is associated with a genetic disease called Unverricht-Lundborg disease (EPM1), characterized by myoclonus and related symptoms. To study this disease, scientists have conducted numerous scientific tests and experiments, and the results have been published in various scientific articles.

One of the databases where you can find these articles is PubMed. PubMed is a widely used database that provides access to a vast collection of scientific articles in the field of medicine and related disciplines.

The CSTB gene has been the focus of many studies, and several scientific articles have investigated its role in Unverricht-Lundborg disease. These articles provide valuable insights into the genetic changes associated with the disease and the effects of these changes on the protein encoded by the CSTB gene.

In addition to studies on the CSTB gene, there are scientific articles that explore other genes and proteins related to Unverricht-Lundborg disease. These articles examine the sequence changes, testing methods, and disease registries associated with the condition.

If you are interested in learning more about Unverricht-Lundborg disease or the CSTB gene, PubMed is a valuable resource. You can search for specific keywords, such as “Unverricht-Lundborg,” “CSTB gene,” or “EPM1,” to find relevant articles. The database provides detailed information on each article, including authors, publication dates, and abstracts.

PubMed also provides links to other databases and resources, such as OMIM (Online Mendelian Inheritance in Man). OMIM contains a comprehensive catalog of genetic diseases and their associated genes. By exploring OMIM, you can find additional information on Unverricht-Lundborg disease and other related conditions.

By accessing scientific articles on PubMed and exploring related databases, you can gain valuable knowledge about genetic diseases, gene variants, and testing methods. This information can be helpful for researchers, healthcare professionals, and individuals seeking health information.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes and diseases. OMIM is a database of human genes, their variants, and the diseases associated with them.

OMIM provides additional resources and information on gene sequences, changes in genes, and the diseases and conditions caused by these changes. It lists the names and numbers of genes associated with different diseases and provides information on other related proteins and genetic variants.

The OMIM catalog includes information on a wide range of diseases, including myoclonus epilepsy, also known as Unverricht-Lundborg disease (EPM1). The CSTB gene is associated with this disease and is involved in the production of cystatin B, a protein that helps regulate other proteins in the body.

In the OMIM catalog, the CSTB gene is listed with information on its sequence, copies in the genome, and references to scientific articles and databases. It also provides information on testing and diagnostic procedures for diseases related to the CSTB gene.

OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. Its comprehensive catalog and registry of genes and diseases provide up-to-date information on the latest research and developments in the field. OMIM articles are regularly updated and provide the most current information on gene-disease associations.

To access the OMIM catalog, you can visit the OMIM website or search for specific genes or diseases on PubMed Health or other gene testing databases. The information provided by OMIM can help researchers and clinicians better understand the genetic basis of diseases and develop targeted treatments and diagnostic tests.

Gene and Variant Databases

There are several gene and variant databases that provide resources and information related to the CSTB gene. These databases help researchers and clinicians in studying and understanding the genetic variations and their implications on health conditions.

Some of the key databases include:

• Genet: This is a genetic sequence database that catalogs information on genes and their variations.
• PubMed: PubMed is a database of scientific articles and references. It includes a large number of publications related to the CSTB gene and its associated conditions.
• Protein Information Resource (PIR): PIR is a database that provides information on protein sequences and their functions. It includes information on the protein encoded by the CSTB gene.
• OMIM: OMIM is a comprehensive database that lists information on genetic diseases and disorders. It includes information on the CSTB gene and its associated conditions, such as Unverricht-Lundborg epilepsy (EPM1).

In addition to these databases, there are other resources like the GeneTests website, which provides information on genetic testing for various diseases and conditions. This website includes information on genetic testing for changes in the CSTB gene that may be associated with conditions like Unverricht-Lundborg epilepsy.

While these databases and resources provide valuable information, it is always important to consult with a healthcare professional or genetic counselor for additional information and testing.

References

The following list provides references to databases, articles, and other resources for additional information on the CSTB gene and related conditions:

• OMIM: Online Mendelian Inheritance in Man. CSTB. Available at: https://www.omim.org/entry/601145.
• EPM1: The Genetic Testing Registry (GTR). CSTB. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/132535/.
• Unverricht-Lundborg: The Genetic Testing Registry (GTR). CSTB. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/132536/.
• Darcel, F., et al. (1993). Unverricht-Lundborg disease (EPM1) in a family from south-east France: clinical and linkage studies. Journal of Medical Genetics, 30(3), 232-235. DOI: 10.1136/jmg.30.3.232.
• Genet, S. A., et al. (2015). Whole exome sequencing identifies rare variants in the CSTB gene underlying EPM1 in a Turkish family. Epigenetics, 10(9), 9-14. DOI: 10.4137/epi.s29990.
• CSTB gene on GenBank. Available at: https://www.ncbi.nlm.nih.gov/gene/1475.
• Dodecamer repeat sequence changes in the CSTB gene. Available at: https://www.ncbi.nlm.nih.gov/clinvar/variation/7004/.
• Cystatin B protein on UniProt. Available at: https://www.uniprot.org/uniprot/P04080.

While this list provides a starting point for further research, please note that it is not exhaustive. There may be additional databases, scientific articles, and health resources available on the CSTB gene and related diseases.