The CUBN gene, also known as cubilin, is a gene that encodes a protein involved in the absorption of vitamin B12 in the body. This gene is located on chromosome 10, and mutations in this gene have been found to be associated with various health conditions, including the rare genetic disorder known as Imerslund-Gräsbeck syndrome.

Cubilin is a receptor protein that is responsible for the function of cubilin-binding proteins. It plays a crucial role in the intrinsic factor-vitamin B12 absorption pathway in the small intestine. Through its receptor function, cubilin mediates the uptake of vitamin B12 into the body, allowing it to be utilized for various biological processes.

Genetic testing for mutations in the CUBN gene can be performed to diagnose Imerslund-Gräsbeck syndrome and other related conditions. This testing can help identify individuals who are at risk for vitamin B12 deficiency and guide appropriate treatment and management strategies. Additional information on the CUBN gene and associated health conditions can be found in scientific articles, references, and databases such as OMIM and PubMed.

In addition to genetic testing, there are other resources available for individuals and healthcare professionals to learn more about the CUBN gene and related health conditions. These resources can provide information on the symptoms, treatment options, and potential changes in the gene that may contribute to the development of these diseases. Some of these resources include online registries and catalogs that compile information from different studies and databases.

Overall, the CUBN gene plays a central role in the absorption of vitamin B12 in the body. Mutations in this gene can lead to various health conditions, including Imerslund-Gräsbeck syndrome. Genetic testing and the use of resources such as scientific articles and databases can help further our understanding of the CUBN gene and its implications for human health.

Health Conditions Related to Genetic Changes

Genetic changes in the CUBN gene have been associated with several health conditions. These changes can affect the function of cubilin, a protein encoded by the CUBN gene that plays a vital role in the body.

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One health condition related to genetic changes in the CUBN gene is known as Imerslund-Gräsbeck syndrome (IGS). Individuals with IGS have a variant in the CUBN gene that impairs the function of cubilin. This can lead to vitamin B12 deficiency and megaloblastic anemia, among other symptoms.

Genetic testing can be used to detect changes in the CUBN gene that may contribute to the development of IGS or other related conditions. These tests, often called CUBN gene sequencing or CUBN gene mutation analysis, provide valuable information about the specific genetic changes present in an individual.

Resources for obtaining additional information on genetic changes in the CUBN gene include scientific databases and publications. PubMed, a central repository of scientific articles, is a useful resource for finding research papers and references on this topic. The Online Mendelian Inheritance in Man (OMIM) database also provides information on genetic diseases and the genes associated with them.

It is important to note that genetic changes in the CUBN gene can also cause health conditions that are not specifically related to IGS. These changes may affect the function of cubilin and its interaction with other proteins in the body, leading to a range of potential effects on health.

Further research and understanding of the genetic changes in the CUBN gene are essential for unraveling the complexities of these health conditions and developing targeted treatments.

In summary, genetic changes in the CUBN gene can contribute to various health conditions, including Imerslund-Gräsbeck syndrome and other related disorders. Genetic testing and resources such as PubMed and OMIM can provide valuable information and references for understanding these conditions.

Imerslund-Gräsbeck syndrome

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder that affects the absorption of vitamin B12 in the body. It is also known as cubilin deficiency or selective vitamin B12 malabsorption with proteinuria.

This condition is caused by mutations in the CUBN gene, which provides instructions for making a protein called cubilin. Cubilin is a receptor that is responsible for the absorption of vitamin B12 from the diet in the small intestine.

Individuals with Imerslund-Gräsbeck syndrome have a defect in the cubilin receptor, which leads to inefficient uptake and transport of vitamin B12 in the body. As a result, vitamin B12 deficiency occurs, leading to anemia and other related health conditions.

Diagnosis of Imerslund-Gräsbeck syndrome can be done through genetic testing to identify mutations in the CUBN gene. There are databases, such as OMIM and PubMed, where additional genetic information, scientific articles, and references on this syndrome and related diseases can be found.

The Intrinsic Factor Receptor, Cubilin, Megalin, and Associated Genes database (IFRCMAG) is a central registry that catalogs variants and changes in the genes involved in vitamin B12 absorption, including the CUBN gene.

Treatment for Imerslund-Gräsbeck syndrome primarily involves vitamin B12 supplementation. Regular monitoring of the patient’s vitamin B12 levels and overall health is necessary to manage the condition effectively.

In summary, Imerslund-Gräsbeck syndrome is a rare genetic condition caused by mutations in the CUBN gene. It affects the absorption of vitamin B12 in the body and can lead to anemia and other related health conditions. Genetic testing and the use of resources like OMIM and PubMed can provide further information on this syndrome and related genes.

Other Names for This Gene

The CUBN gene, also called Cubilin, is known by several other names. These names are used in various scientific and medical resources to refer to the same gene.

• Imerslund-Gräsbeck Syndrome, Intrinsic Factor Receptor (Cubilin)-deficiency Type
• Intrinsic Factor-Cobalamin Receptor
• Cubilin Intrinsic Factor Cobalamin Receptor
• Intrinsic Factor-vitamin B12 Receptor

These alternative names highlight different aspects and functions of the Cubilin gene.

The Cubilin gene is involved in several conditions and diseases, including Imerslund-Gräsbeck syndrome. It plays a crucial role in the intrinsic factor-vitamin B12 receptor complex, which is important for the absorption of vitamin B12 in the body.

Information about the Cubilin gene can be found in various scientific and medical databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed (a database of scientific articles). These resources provide additional references and articles related to the Cubilin gene and its function.

Genetic testing and variant cataloging can be done to detect changes in the Cubilin gene. This testing can help in diagnosing and understanding conditions associated with the gene, such as Imerslund-Gräsbeck syndrome.

Health professionals and individuals can access information about the Cubilin gene through genetic testing laboratories, online genetic testing resources, and genetic disease registries. These resources provide valuable information about the gene and its role in various conditions.

The Cubilin gene is listed on the Online Mendelian Inheritance in Man (OMIM) database and other genetic databases. It is part of the central catalog of genetic information and is an important gene for studying various genetic conditions.

In conclusion, the Cubilin gene, also known by various other names, is a crucial gene involved in conditions such as Imerslund-Gräsbeck syndrome. It functions as an intrinsic factor-vitamin B12 receptor and plays a vital role in the absorption of vitamin B12 in the body. Information about this gene can be accessed through scientific databases, genetic testing, and other resources.

Additional Information Resources

In addition to the information provided in this article, the following resources can be helpful for further understanding of the CUBN gene, proteins, and related conditions:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic conditions, including those related to the CUBN gene. It offers descriptions, references, and links to other resources.
• PubMed: PubMed is a database of scientific articles and publications. By searching for keywords such as “CUBN gene”, “cubilins”, or related conditions, you can find research papers and studies that discuss the genetic and molecular aspects of the gene and proteins.
• Genetic testing: If you suspect that you or someone you know may have a genetic condition related to the CUBN gene, genetic testing can provide more information. Consult a healthcare professional or genetic counselor for access to appropriate testing resources.
• Genetic registries: There are various genetic registries and databases that collect information on specific conditions or genes. These resources can provide further insights into the prevalence, symptoms, and management of conditions related to the CUBN gene.
• Intrinsic Health: Intrinsic Health is a company that offers genetic testing services. They provide tests for various genetic conditions, including some related to the CUBN gene. Their website offers resources, articles, and information on genetic testing.
• Articles and publications: There are numerous scientific articles and publications that have been released on the function and role of the CUBN gene and its protein products. Accessing these articles can provide deeper insights into the molecular mechanisms and implications of gene changes.
• Conditions related to CUBN gene: The CUBN gene and its protein products have been implicated in several health conditions, such as Imerslund-Gräsbeck syndrome, anemia, and other genetic disorders. Consulting condition-specific resources can provide more information on symptoms, management, and treatment options.

By exploring these additional resources, you can gain a more comprehensive understanding of the CUBN gene, its protein products, and the conditions that are associated with it.

Tests Listed in the Genetic Testing Registry

The CUBN gene is associated with a syndrome called Imerslund-Gräsbeck syndrome. This syndrome is caused by changes in the CUBN gene, which encodes the cubilin receptor. Cubilin is an intrinsic factor receptor that plays a central role in the absorption of vitamins and proteins in the body.

The Genetic Testing Registry (GTR) lists several tests related to the CUBN gene:

• Gene Name: CUBN
• Test Name: Imerslund-Gräsbeck Syndrome
• Test Variants: Various variants of the CUBN gene
• Test Method: Genetic sequencing, variant analysis

Additional information on these tests can be found in scientific articles, OMIM database, PubMed, and other genetic testing resources. The GTR provides references to these resources for further information.

Imerslund-Gräsbeck syndrome is characterized by vitamin B12 deficiency caused by malabsorption. This condition can lead to anemia and other related health conditions. The Genetic Testing Registry lists tests for this genetic syndrome, along with genetic changes associated with it.

The GTR catalog provides a comprehensive list of genetic tests available to diagnose Imerslund-Gräsbeck syndrome. These tests can help determine the specific genetic changes in the CUBN gene and provide valuable information for managing and treating the condition.

Scientific Articles on PubMed

The CUBN gene is associated with a genetic disorder called Cubilin Deficiency Syndrome. This syndrome is characterized by the impaired function of cubilins, which are proteins that play a crucial role in the body’s intrinsic factor receptor function. Individuals with this syndrome may experience anemia and other related health conditions.

Scientific articles on PubMed provide valuable information on various aspects related to the CUBN gene, Cubilin Deficiency Syndrome, and its associated conditions. These articles often provide insights into the genetic changes, testing resources, and diagnostic procedures for identifying this syndrome. The PubMed database is a central hub for scientific research in the field of genetics and provides an extensive catalog of articles on this topic.

Researchers and healthcare professionals can access this vast repository of scientific literature on PubMed to stay updated with the latest advancements in the understanding of Cubilin Deficiency Syndrome and related diseases. The articles listed on PubMed cover various aspects, including case studies, clinical trials, and genetic research. When searching for information about Cubilin Deficiency Syndrome, it is recommended to use keywords such as “CUBN gene,” “Cubilin Deficiency Syndrome,” and “genetic testing.”

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) provide additional resources and references for studying the genetic basis of Cubilin Deficiency Syndrome. OMIM contains detailed information about the genetic variant associated with this syndrome, as well as related genes and their functions.

Healthcare professionals often use genetic testing to diagnose Cubilin Deficiency Syndrome and identify any associated conditions. These tests, including specialized tests such as Imerslund-Gräsbeck syndrome testing, help in identifying the specific genetic changes responsible for the syndrome. The results of these tests provide crucial information for developing personalized treatment plans and managing the health of affected individuals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genes and their associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

OMIM, short for Online Mendelian Inheritance in Man, contains information about genes, genetic variants, and diseases. The database lists genes and their related diseases, as well as other genetic changes and variations associated with specific conditions.

The genes listed in the catalog play important roles in various biological processes and functions. For example, the CUBN gene is involved in the intrinsic factor-Cobalamin receptor (also known as the Imerslund-Gräsbeck syndrome). This receptor has a central function in the absorption of vitamin B12 from the diet.

Each gene entry in the catalog provides detailed information, including the gene’s name, function, and associated diseases. Additionally, the catalog includes references to scientific articles and other resources for further exploration.

OMIM is a widely used and highly respected database in the field of genetics. It is regularly updated and released in an online publication format called OMIM, with additional information available through the OMIM registry.

Researchers and healthcare professionals often rely on OMIM when conducting genetic testing or searching for information on specific genes or diseases. The catalog provides a organized and comprehensive framework for understanding the genetic basis of various conditions and can aid in the diagnosis and management of genetic disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides comprehensive information on genes, genetic variants, and their associated diseases, making it an essential tool for research and clinical practice.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information about the function and characteristics of genes and genetic variants in the body. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions.

One of the genes related to the CUBN gene is Cubilins. Cubilins are intrinsic proteins that act as receptors for small proteins called ligands. They play a central role in the body’s ability to absorb and transport important substances, such as vitamins and other nutrients.

A well-known database that provides information about genes and genetic variants is OMIM (Online Mendelian Inheritance in Man). OMIM catalogs information on a wide range of genetic conditions and syndromes. It serves as a comprehensive resource for researchers and clinicians looking for additional information on specific genetic diseases.

Another valuable database is the Genetic Testing Registry (GTR). GTR provides a centralized location for clinicians and individuals to access information on genetic tests available for a particular gene or condition. It includes information on the purpose of the test, its methodology, and related scientific articles.

In addition to these major databases, there are other resources available, such as PubMed, where researchers can find scientific articles related to the CUBN gene and its variants. These articles provide valuable insights into the functioning of the gene and any changes or mutations that may be associated with specific diseases or conditions.

When searching for information on specific gene variants, various naming systems may be used. These include HGNC (HUGO Gene Nomenclature Committee) names, which provide standardized names for genes, and HGVS (Human Genome Variation Society) names, which describe specific genetic variants. By using these standardized naming systems, researchers and clinicians can effectively communicate and share information about genetic variants.

Overall, gene and variant databases serve as valuable tools for accessing information about the function of genes, the impact of genetic variants on health, and the availability of testing resources. They provide a comprehensive and up-to-date repository of knowledge for researchers, clinicians, and individuals seeking to understand the genetic basis of diseases and conditions.

References

• OMIM – Online Mendelian Inheritance in Man. A comprehensive database of genetic diseases and related genes. Available at: https://www.omim.org

• Databases – Various genetic databases where information on the CUBN gene can be found, such as NCBI Genes & Expression, UCSC Genome Browser, and Ensembl. These databases provide access to gene sequences, variants, and associated information.

• Imerslund-Gräsbeck Syndrome – A genetic disorder characterized by a deficiency in intrinsic factor receptor, which is caused by mutations in the CUBN gene. It is associated with vitamin B12 malabsorption and megaloblastic anemia.

• Testing – Genetic testing can be performed to identify changes or variants in the CUBN gene. This can help diagnose Imerslund-Gräsbeck syndrome and other related conditions.

• Receptor – Cubilins, encoded by the CUBN gene, act as receptors for intrinsic factor-vitamin B12 complex. They are essential for vitamin B12 absorption in the small intestine.

• Articles on PubMed – Scientific articles and research papers on the CUBN gene and its role in Imerslund-Gräsbeck syndrome, vitamin B12 absorption, and related genetic conditions can be found on PubMed, a database of biomedical literature. Available at: https://pubmed.ncbi.nlm.nih.gov

• Additional Resources – Other resources for information on the CUBN gene include scientific journals, textbooks, and online platforms dedicated to genetics and molecular biology.