AMN gene – Austra Health

The AMN gene, also known as AMN, is a gene responsible for encoding a protein called amen, which plays a crucial role in the body. Mutations in this gene can lead to a condition known as AMN proteinuria, which is characterized by excessive protein excretion in urine.

The AMN gene is listed in various genetic databases, including OMIM and the Genetic Testing Registry, where additional information and references can be found. A recent study published in the journal Epub revealed that mutations on the AMN gene are associated with cobalamin metabolic disorders and Imerslund-Gräsbeck syndrome, a rare genetic disorder characterized by megaloblastic anemia and proteinuria.

It is important to note that the AMN gene is related to other genes involved in cobalamin metabolism, and changes in these genes can lead to various diseases. Genetic testing for mutations in the AMN gene and related genes can be a powerful tool for diagnosis and understanding of these disorders.

Scientific articles and resources on the AMN gene and related proteins can be found through PubMed and other health-related databases. These resources provide valuable information for researchers and healthcare professionals studying the function of the AMN gene and its role in various diseases.

In conclusion, the AMN gene is responsible for encoding the amen protein, and mutations in this gene can lead to various disorders, including proteinuria. Genetic testing and research on the AMN gene and related genes are essential for understanding and diagnosing these conditions.

Health Conditions Related to Genetic Changes

The AMN gene, also known as the “Central Cobalamin Receptor 2” gene, is associated with various health conditions. These conditions are caused by genetic changes or mutations in the AMN gene. Many of these conditions have been extensively studied and documented in scientific literature.

One such condition is Imerslund-Gräsbeck syndrome, which is also referred to as “Imerslund-Gräsbeck Imerslund-Grasbeck”. This syndrome is characterized by proteinuria and small body size. It is caused by genetic changes in the AMN gene, which affect the function of proteins involved in the absorption of cobalamin (vitamin B12) in the body.

Through extensive testing and research, scientists and healthcare professionals have identified additional health conditions related to genetic changes in the AMN gene. The OMIM database, PubMed, and other scientific resources are valuable sources of information for understanding these conditions.

One such resource is the Human Gene Mutation Database (HGMD), which catalogues genetic changes and their associated health conditions. The HGMD provides a comprehensive list of genetic changes in the AMN gene, along with their names, variant types, and references to scientific literature.

In addition to the HGMD, there are other databases and registries that provide information on genetic changes in the AMN gene. These resources include the Exome Aggregation Consortium (ExAC), the Genome Aggregation Database (gnomAD), and the Online Mendelian Inheritance in Man (OMIM) database.

Through these databases, scientists can gain valuable insights into the genetic changes in the AMN gene and their impact on health. This information can be used to develop diagnostic tests, treatment strategies, and further research into these conditions.

In conclusion, the AMN gene is associated with various health conditions caused by genetic changes or mutations. Imerslund-Gräsbeck syndrome is one such condition, but there are many others. Scientific databases and resources provide valuable information on these conditions, helping scientists and healthcare professionals better understand and manage them.

Imerslund-Gräsbeck syndrome

Imerslund-Gräsbeck syndrome is a genetic disorder that affects the body’s ability to absorb vitamin B12. It is also known as selective vitamin B12 malabsorption with proteinuria.

Individuals with Imerslund-Gräsbeck syndrome have a mutation in the AMN gene, which is involved in the function of the receptor for intrinsic factor-cobalamin complex. This complex is necessary for the absorption of vitamin B12 from the diet.

People with this syndrome may experience symptoms such as anemia, which is a condition characterized by a shortage of red blood cells, and proteinuria, which is the presence of excess protein in the urine.

To diagnose Imerslund-Gräsbeck syndrome, medical professionals can use genetic testing to look for mutations in the AMN gene. This testing can be done through various resources such as OMIM, which is a catalog of human genes and genetic disorders, and PubMed, which provides access to articles on biomedical topics.

Further information about Imerslund-Gräsbeck syndrome can be obtained from the Genetic Testing Registry, which is a central catalog of genetic tests and their associated information.

Other conditions called cobalamin-related disorders can cause similar symptoms to Imerslund-Gräsbeck syndrome. It is important to differentiate between these diseases through proper testing and genetic analysis.

References:

OMIM: IMERSLUND-GRASBECK SYNDROME; IGS
Genetic Testing Registry: Imerslund-Gräsbeck Syndrome
PubMed: Imerslund-Gräsbeck Syndrome

Other Names for This Gene

The AMN gene is also known by several other names:

Imerslund-Gräsbeck syndrome (IGS)
Central cobalamin proteinuria
CUBN
Specificity protein 3

These names refer to different aspects related to the function and genetic changes in the AMN gene. They are used in various scientific articles, databases, and testing procedures to provide additional information about this gene and the conditions it is associated with.

The OMIM gene registry, PubMed, and other scientific databases are sources where more information about the AMN gene and related conditions can be found. These references provide valuable details on the genetic variants, tests, and changes in the AMN gene that are linked to certain diseases.

Additional Information Resources

Here are some additional resources for more information on the AMN gene and related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic variants, and their associated diseases. You can find information on the AMN gene and related disorders by searching for “AMN” or “AMN gene” in the OMIM database.
PubMed: PubMed is a widely-used database of scientific articles. You can find articles on the AMN gene and related topics by searching for “AMN gene” or “AMN protein” in the PubMed database.
Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central online resource that provides information about genetic tests. You can find information on genetic testing for AMN gene variants and related disorders in the GTR.
Scientific Articles: Many scientific articles have been published on the AMN gene and its function. These articles can provide in-depth information on the role of the AMN gene in cobalamin metabolism, the changes in the body’s systems caused by AMN gene variants, and the related diseases such as Imerslund-Gräsbeck syndrome.
Health Databases: There are several health databases that provide information on proteinuria, anemia, and other related conditions. These databases can help you understand the relationship between the AMN gene and these health issues.
Additional Online Resources: You can find additional information on the AMN gene and related topics on various websites dedicated to genetics and rare diseases. These resources often provide educational materials, patient stories, and references to scientific articles.

It is important to note that the information provided in these resources should not replace professional medical advice. If you have specific questions about the AMN gene or related conditions, it is recommended to consult with a genetics specialist or healthcare provider.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central genetic testing catalog that provides information about genetic tests for a variety of diseases and conditions. It lists the names of tests, the genes they test for, and additional related information. The GTR is a comprehensive resource that is continuously updated and released by the National Institutes of Health (NIH).

One genetic test listed in the GTR is the AMN gene test. This test is used to detect changes in the AMN gene, which is associated with a condition called Imerslund-Gräsbeck syndrome. Imerslund-Gräsbeck syndrome is a genetic disorder characterized by proteinuria, a condition where proteins leak into the urine. People with this syndrome have difficulties absorbing cobalamin (vitamin B12) from food, leading to vitamin B12 deficiency and anemia.

In addition to the AMN gene test, the GTR also lists other genetic tests for various genes and conditions. These tests can provide important information about the presence of specific genetic variants and their potential impact on health. The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of different diseases.

The information listed in the GTR is gathered from various scientific databases, such as PubMed and OMIM. These databases contain references to scientific articles and publications related to genetic testing and genetic diseases. By consolidating information from these sources, the GTR helps to centralize genetic testing information and make it more accessible to the medical community and the general public.

Furthermore, the GTR provides information on resources and guidelines for genetic testing, including links to relevant organizations and publications. It offers a searchable database, allowing users to easily find specific genetic tests and related information.

In summary, the Genetic Testing Registry is a valuable tool for accessing information on genetic tests, genes, and associated conditions. It helps healthcare professionals and individuals understand the genetic basis of diseases and provides a centralized catalog of genetic testing resources.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed that discuss the AMN gene and related topics. PubMed is a database that provides access to a vast collection of scientific literature. Researchers, doctors, and scientists can search for articles and publications related to specific genes, diseases, and conditions.

The AMN gene, also known as the AMN cobalamin transporter gene, is responsible for coding a protein that plays a crucial role in the absorption and transport of cobalamin, also known as vitamin B12, in the body. This gene is related to a genetic disorder called Imerslund-Gräsbeck syndrome, which is characterized by anemia, proteinuria, and changes in the central nervous system.

PubMed is a valuable resource for researchers and healthcare professionals seeking information on this specific gene and other related genes. The database allows users to access scientific articles that provide detailed information on the function, testing, and genetic variants of the AMN gene. These articles also discuss the relationship between the AMN gene and specific health conditions.

When searching for articles on PubMed, it is helpful to use specific keywords such as “AMN gene,” “cobalamin transporter gene,” or “Imerslund-Gräsbeck syndrome” to narrow down the search results. PubMed also provides additional resources such as references, related articles, and links to external databases like OMIM (Online Mendelian Inheritance in Man). These resources can further enhance the understanding of the AMN gene and its implications in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, or Online Mendelian Inheritance in Man, is a central resource for scientific information on genetic conditions and related genes. This catalog provides a comprehensive listing of genes and diseases, along with information on their associated variants, protein changes, and body function effects.

OMIM is a widely used and reliable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It serves as a valuable reference for genetic testing, diagnosis, and research.

In relation to the AMN gene, OMIM provides detailed information on the Amnionless protein and its effects on health. The AMN gene is associated with a rare genetic disorder called Imerslund-Gräsbeck syndrome, which manifests as megaloblastic anemia and proteinuria due to cobalamin (Vitamin B12) malabsorption.

The OMIM catalog includes references to articles from scientific journals, including PubMed, where additional information on the AMN gene and related conditions can be found. The catalog also lists resources for genetic testing and changes in the gene and protein related to specific conditions.

OMIM provides a user-friendly interface for searching and accessing information on genes and diseases. The catalog can be accessed online and is available in both web and epub formats. It also allows users to access information on related genes and proteins that may be involved in the same or other diseases.

The use of OMIM in genetic research and testing has significantly contributed to our understanding of various genetic conditions. It continues to be updated regularly with new findings, ensuring that the scientific community and healthcare professionals have access to the latest information in the field of genetics.

In summary, the Catalog of Genes and Diseases from OMIM is an invaluable resource for accessing information on genes, diseases, and related conditions. It provides a comprehensive and reliable source of scientific information for researchers, healthcare professionals, and individuals interested in genetic health.

Gene and Variant Databases

A gene database is a collection of information about genes, including their names, functions, and related diseases. Variant databases contain information about genetic variants and their association with diseases.

One of the most widely used gene databases is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genes and genetic conditions. OMIM lists genes associated with various diseases, including the AMN gene associated with Imerslund-Gräsbeck syndrome (IGS) and its related conditions.

The Human Gene Mutation Database (HGMD) is another valuable resource that collects information on gene variations associated with diseases. It provides references to scientific articles, cataloging the genetic changes and their impact on protein function. HGMD includes the AMN gene and variants related to IGS and proteinuria.

There are also general genetic databases like GenBank, which stores DNA sequences submitted by scientists worldwide. GenBank can be searched for specific genes and variants, including AMN and its associated conditions.

In addition to gene databases, there are variant-specific databases, such as the Leiden Open Variation Database (LOVD). LOVD collects and catalogs genetic variants and their associations with diseases. It includes the AMN gene and variants related to IGS and cobalamin deficiencies.

Many of these databases are freely accessible through online resources. They allow researchers, clinicians, and the general public to access information about genes, variants, and their effects on health. Some databases also offer genetic testing resources, facilitating the diagnosis and management of genetic conditions.

To access these databases, you can visit their respective websites or utilize tools like PubMed, an online database of scientific articles. PubMed allows searching for specific genes and variants, providing access to relevant research papers.

By utilizing these gene and variant databases, researchers and clinicians can stay updated on the latest scientific findings and improve their understanding of various genetic conditions. They serve as valuable resources for studying the AMN gene and its association with Imerslund-Gräsbeck syndrome and other related diseases.

Online Mendelian Inheritance in Man (OMIM)
Human Gene Mutation Database (HGMD)
GenBank
Leiden Open Variation Database (LOVD)
PubMed

References

Imerslund-Gräsbeck syndrome. Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0542514/
OMIM.ORG. Available from: https://www.omim.org/entry/613381
PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/

Additional scientific articles and resources related to the AMN gene and its variant function for cobalamin absorption can be found through a search in PubMed, which is a central database of medical and scientific articles. The Genetic Testing Registry provides information on the testing of genetic conditions and lists the genetic names and changes associated with the AMN gene. OMIM is another comprehensive database that provides information on genetic diseases and their associated genes. These resources can be valuable for further exploring the role of the AMN gene in health and disease.