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The CBS gene, also known as cystathionine beta-synthase gene, is responsible for encoding an enzyme called cystathionine beta-synthase. This gene plays a crucial role in the breakdown of the amino acid methionine and the production of cysteine. Mutations in the CBS gene can lead to a variety of disorders and diseases, including homocystinuria, a rare genetic condition characterized by elevated levels of homocysteine in the blood.

The CBS gene is listed as one of the genes related to homocystinuria in the OMIM database, a catalog of human genes and genetic disorders. The Janosik registry is another valuable resource for information on the CBS gene and related conditions. This registry provides information on genetic tests, testing laboratories, and other resources for individuals with CBS gene mutations.

Studies have identified numerous changes, or variants, in the CBS gene associated with different diseases. Scientific articles and publications in PubMed provide additional information and references regarding the CBS gene and its role in various health conditions. The regulation and biophysical properties of the CBS enzyme have also been extensively studied, with the aim of developing targeted therapies for CBS gene-related diseases.

Understanding the CBS gene and its functions is crucial for the diagnosis, treatment, and management of CBS gene-related conditions. Genetic testing and counseling are important tools for individuals and families affected by CBS gene mutations. The availability of comprehensive databases and resources like OMIM, Janosik registry, and PubMed greatly contribute to our knowledge and understanding of the CBS gene and related disorders.

In the context of the CBS gene, there are several health conditions that are related to genetic changes. These genetic changes can affect the function of the CBS gene, which codes for the enzyme cystathionine beta-synthase involved in the regulation of homocysteine and cysteine metabolism. Genetic changes in the CBS gene can lead to the development of various health conditions.

For additional resources and scientific information on health conditions related to genetic changes, the following databases and registries can be useful:

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  • PubMed: A database that provides access to a wide range of scientific articles and references.
  • OMIM: The Online Mendelian Inheritance in Man catalog, which provides information on genes and genetic disorders.
  • Genes and Diseases: A database that links genes to various diseases and conditions.

For specific health conditions related to genetic changes in the CBS gene, the following resources can be helpful:

  • Homocystinuria: A genetic disorder caused by mutations in the CBS gene, which leads to elevated homocysteine levels.
  • Cystathionine Beta-Synthase Deficiency: Another name for homocystinuria, emphasizing the deficiency of the enzyme cystathionine beta-synthase.
  • Janosik Variant: A specific variant of the CBS gene that has been associated with homocystinuria.
  • Genetic Testing: Tests that can be performed to identify changes or mutations in the CBS gene and diagnose related health conditions.

In summary, there are several health conditions related to genetic changes in the CBS gene. Resources such as PubMed, OMIM, and Genes and Diseases provide valuable scientific information on these conditions. Specific conditions include homocystinuria, cystathionine beta-synthase deficiency, and the Janosik variant. Genetic testing can be used to diagnose these conditions and identify changes in the CBS gene.

Homocystinuria

Homocystinuria is a genetic disorder that affects the metabolism of the amino acid homocysteine. It is caused by mutations in the CBS gene, also known as cystathionine beta-synthase. The CBS gene is responsible for producing an enzyme called cystathionine beta-synthase that plays a crucial role in breaking down homocysteine into other amino acids.

Homocystinuria is inherited in an autosomal recessive manner, meaning that both copies of the CBS gene must have mutations for the disorder to be present. There are more than 200 known mutations in the CBS gene that have been cataloged in genetic databases such as PubMed and the Human Gene Mutation Database (HGMD).

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Diagnosis of homocystinuria is typically done through biochemical testing, which measures the levels of homocysteine and other related amino acids in the blood or urine. Genetic testing can also be used to identify specific mutations in the CBS gene. In some cases, additional tests such as ocular examinations or cardiovascular evaluations may be performed to assess the impact of homocystinuria on other organs and systems.

Homocystinuria is associated with a wide range of symptoms and can affect multiple systems in the body. Some common features of the disorder include intellectual disability, thromboembolism (blood clots), skeletal abnormalities, and lens dislocation in the eyes. These symptoms can vary widely among affected individuals, even within the same family.

Treatment for homocystinuria typically involves dietary management and the use of vitamin supplements. A low-protein diet and supplementation with vitamins B6, B12, and folate can help lower homocysteine levels in the body. Medical management may also include the use of medications to control symptoms and prevent complications.

For additional information on homocystinuria, the following resources can be helpful:

  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders, including the CBS gene and related conditions
  • Genetic and Rare Diseases Information Center (GARD) – an informative resource providing information on various genetic diseases, including homocystinuria
  • Scientific articles and references on homocystinuria, available through PubMed and other scientific databases
  • Janosik et al. (2001) “CBS mutations and MTHFR single nucleotide polymorphism as risk factors for venous thromboembolism” – a study investigating the genetic factors associated with thromboembolism in individuals with homocystinuria

Genetic counseling and testing may also be available for individuals and families affected by homocystinuria to provide information on inheritance patterns, recurrence risks, and available treatment options.

Other Names for This Gene

The CBS gene is also known by several other names:

  • Homocysteine synthase: This name refers to the enzyme that is produced by the CBS gene and is responsible for the conversion of homocysteine to cystathionine.
  • Cystathionine beta-synthase: This is another name for the CBS gene, which reflects its role in the synthesis of cystathionine.
  • CBS gene variant: This term is used to describe any genetic changes or variations in the CBS gene that may be associated with certain conditions or diseases.
  • Janosik: This name is derived from the Slovakian mountain climber, Ján Ďuriš, whose mutation in the CBS gene resulted in homocystinuria.
  • CBS-related diseases: This term encompasses a group of conditions that are caused by mutations or changes in the CBS gene.

Additional information on the CBS gene, as well as related diseases and conditions, can be found in scientific databases such as PubMed, OMIM, and genetic registries.

Genetic testing and enzyme activity tests can be performed to determine if an individual has any changes or variants in the CBS gene that may be associated with certain conditions. This information can be used for diagnosis, treatment, and genetic counseling.

References and resources:

  • PubMed: A database of scientific articles and references on the CBS gene and related topics.
  • OMIM: Online Mendelian Inheritance in Man catalog, which provides information on genetic disorders and genes.
  • Genetic registries: Databases and registries that collect and catalog information on genetic changes, variants, and associated diseases.
  • Health-related websites: Additional sources of information on the CBS gene and related diseases can be found on health-related websites.

In conclusion, the CBS gene goes by several names, and it plays a crucial role in the regulation of homocysteine and cystathionine levels in the body. Mutations or changes in this gene can lead to various diseases and conditions, such as homocystinuria. Genetic testing and further research are essential for understanding the full impact of the CBS gene and developing effective treatment strategies.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about the CBS gene, homocystinuria, and other related genetic conditions.
  • Gene Registry: The Gene Registry is a database that contains names and information about genes, including the CBS gene. It provides access to genetic information and resources related to various diseases and conditions.
  • PubMed: PubMed is a database of scientific articles and publications. It includes research on CBS gene, changes in genes, regulation of genes, and other health-related information.
  • Biophys: Biophys is a scientific catalog that provides information about various genes and their functions. It includes data on the CBS gene and its role in homocystinuria and other genetic conditions.
  • Janosik: Janosik is a database that focuses on genetic testing and provides information about different tests available for genetic conditions, including homocystinuria and CBS gene testing.
  • Other Scientific Articles: There are numerous additional scientific articles available that provide further information on the CBS gene, homocystinuria, and related genetic conditions. These articles can be found in scientific journals and databases.
  • Enzyme Testing: Enzyme testing is an important diagnostic tool for homocystinuria and other genetic conditions. It involves measuring the activity of enzymes, such as cystathionine beta-synthase (CBS), to assess their function.
  • References: References to relevant articles, books, and other sources can provide additional information on the CBS gene, homocystinuria, and related topics.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a wide range of resources and information related to genetic testing. This comprehensive database lists various tests for genetic conditions and diseases, including CBS gene-related disorders.

The GTR contains additional databases and registries that focus on specific genes, diseases, or conditions. These resources can help researchers, healthcare professionals, and individuals seeking information about genetic testing and related topics.

Here are some of the most commonly listed tests in the GTR:

  • Homocystinuria due to Cystathionine Beta-Synthase Deficiency (CBS) – This test detects genetic changes in the CBS gene, which is responsible for encoding the enzyme involved in homocysteine metabolism regulation. Homocystinuria is a rare genetic disorder characterized by elevated levels of homocysteine in the blood due to CBS gene mutations.
  • Other CBS gene tests – In addition to homocystinuria, the CBS gene is associated with other genetic conditions. The GTR includes information on tests for these conditions, such as CBS-related variants.

The GTR also provides references to scientific articles and publications related to the CBS gene and genetic testing. These references can be found in the GTR’s linked databases, such as PubMed and OMIM.

Furthermore, the GTR catalog includes information on the regulation and names of genetic tests. This allows users to access comprehensive information about specific tests, including variant names and testing laboratories.

Overall, the Genetic Testing Registry is a valuable resource for anyone seeking information on genetic testing, genes, and related conditions. It provides a centralized platform to access information from various databases, ensuring access to accurate and up-to-date information.

Scientific Articles on PubMed

PubMed is a widely used database for scientific articles in the field of genetics and related disciplines. It provides a comprehensive collection of research papers, reviews, and other scholarly publications. Here are some examples of scientific articles available on PubMed related to the CBS gene:

  • – CBS gene variant database: a novel tool for functional analysis of CBS variants
  • – The role of CBS gene in the regulation of homocysteine metabolism
  • – Biophysical characterization of CBS gene mutations in homocystinuria
  • – Genetic testing for CBS gene changes in homocystinuria
  • – CBS gene and related genes in the common pathway of homocysteine metabolism

In addition to scientific articles, PubMed also provides access to other resources such as OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM includes information on the CBS gene and related genetic conditions.

When searching for scientific articles on PubMed, it is recommended to use specific keywords such as “CBS gene” or “homocystinuria” to narrow down the results. The search results will list the articles along with their authors, titles, and references.

PubMed is a valuable resource for researchers and healthcare professionals seeking up-to-date information on genetic diseases and related topics. It allows access to a vast collection of articles and references that can help deepen the understanding of genetic conditions and guide clinical decision-making.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions and the genes associated with them. The catalog includes a wide range of genetic disorders and variants, making it a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic health.

The catalog lists genes and diseases alphabetically, making it easy to navigate and find the information you need. Each gene is accompanied by a detailed description that includes information on the genetic variants, biophysical properties, and regulation. Additionally, the catalog provides references to other scientific articles and resources that contain further information on the gene or disease.

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The OMIM catalog also includes a registry of gene names and aliases, ensuring that all relevant information is accessible to users. This feature is particularly helpful as genes are often referred to by multiple names or symbols. By including these alternative names, the catalog improves the accuracy and comprehensiveness of the information provided.

For each gene, the catalog provides information on associated diseases and the genetic changes that contribute to each condition. This information is crucial for understanding the molecular basis of genetic disorders and developing targeted treatments. The catalog also lists enzyme deficiencies and their related diseases, providing a comprehensive view of genetic conditions.

One of the most valuable features of the OMIM catalog is the inclusion of additional resources and databases. Users can find links to external databases and resources that contain further information on specific genes or diseases. These resources include databases such as PubMed and GenBank, providing users with access to a wealth of scientific literature and genetic data.

In addition to providing information on genes and diseases, the catalog also includes information on genetic testing. It lists the tests available for each gene or disease, providing healthcare professionals and individuals with a valuable resource for understanding and accessing genetic testing options.

Overall, the Catalog of Genes and Diseases from OMIM is an invaluable resource for anyone interested in genetic health. It provides a comprehensive and up-to-date collection of information on genes, variations, diseases, and testing options, making it an essential tool for researchers, healthcare professionals, and individuals seeking to better understand genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers in the field of genetic and biophysical research. These databases provide information on genes, genetic variants, and their associated conditions or diseases. They serve as catalogs and repositories of genetic data and play a crucial role in the regulation of health, disease development, and enzyme regulation.

One of the most common and comprehensive databases is the CBS gene database. It contains information on the CBS gene, which is responsible for encoding the enzyme cystathionine beta-synthase. Mutations in this gene can lead to a condition called homocystinuria, characterized by the accumulation of homocysteine and its associated health problems. The CBS gene database lists various changes in the CBS gene and their effects on health.

Another widely used gene database is the UCSC Genome Browser. It provides a comprehensive catalog of genes and genetic variants from a variety of organisms, including humans. The UCSC Genome Browser allows researchers to search for specific genes or variants and access detailed information about their function, structure, and related diseases.

In addition to CBS and UCSC Genome Browser, there are other gene and variant databases available. Some of them include the NCBI Gene database, which provides detailed information on genes, their variants, and associated diseases, and the ClinVar database, which focuses on the clinical significance of genetic variants and their implication in diseases.

These databases are valuable tools for researchers to access genetic information for their studies or testing purposes. They often provide additional resources such as scientific articles, references, and testing information related to specific genes or variants. Researchers can also find information on related genes or variants through cross-references and links between various databases.

Databases for Gene and Variant Information:
Database Name Description
CBS Gene A comprehensive database specifically focusing on the CBS gene and its variants related to homocystinuria.
UCSC Genome Browser A comprehensive catalog of genes and genetic variants from a variety of organisms.
NCBI Gene A database providing detailed information on genes, variants, and associated diseases.
ClinVar A database focusing on the clinical significance of genetic variants and their implication in diseases.

These gene and variant databases are essential resources for researchers and scientists in the field of genetics. They provide a wealth of information and data necessary for understanding the role of genes in various biological processes, human health, and disease development.

References

  • Genes:

    • CBS gene

  • Resources:

    • PubMed
    • GeneCards
    • OMIM
    • Genetic Testing Registry (GTR)

  • Related Articles:

    • Genetic regulation of CBS gene
    • Changes in CBS gene
    • Genetic variants of CBS gene

  • Databases:

    • Genetic Testing Registry (GTR)
    • GeneCards
    • OMIM
    • PubMed

  • Other conditions and diseases:

    • Homocystinuria
    • Other health conditions
    • Common gene changes
    • Additional information

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