ABCG8 Gene: Functions, Mutations, and Implications for Health

The ABCG8 gene, also known as the ATP-binding cassette sub-family G member 8 gene, is a genetic component that plays a crucial role in the body. Situated on chromosome 2, this gene encodes sterolin-2, a protein that is vital for the transport of sterols. Research has shown that mutations in the ABCG8 gene can lead to sitosterolemia, a rare genetic disorder characterized by high levels of sterols in the blood and tissues.

The ABCG8 gene belongs to a family of genes known as the ATP-binding cassette (ABC) transporters. These transporters are present in various cells and are responsible for transporting a wide range of substances across cell membranes. In the case of the ABCG8 gene, it specifically transports sterols, such as sitosterol, out of the cells and into the bile ducts where they are eventually excreted.

Scientific studies have identified various polymorphisms and genetic changes in the ABCG8 gene that are associated with different diseases and conditions. Some of these diseases include atherosclerosis, gallbladder diseases, and other disorders related to changes in sterol levels. The ABCG8 gene has been extensively studied, and there are numerous articles and references available in scientific databases, such as PubMed and OMIM, that provide valuable information about this gene and its role in health and disease.

Furthermore, the ABCG8 gene is listed in various genetic resources and databases, making it easily accessible for researchers and healthcare professionals. These resources provide comprehensive information about the gene, including its variants, functions, and related conditions. Additionally, they offer genetic testing and counseling services for individuals who may be at risk for genetic disorders associated with the ABCG8 gene.

In conclusion, the ABCG8 gene is an essential genetic component involved in the transport of sterols, particularly sitosterol, in the body. Mutations in this gene can lead to sitosterolemia and other related conditions. The scientific community has extensively studied this gene, and there are numerous resources and databases available that provide valuable information and testing services related to the ABCG8 gene.

Genetic changes in the ABCG8 gene can be associated with various health conditions. This gene plays a crucial role in the regulation of cholesterol metabolism by encoding a protein involved in the transportation of sterols, including plant sterols and cholesterol, from the intestines and liver into the bile ducts.

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One variant of the ABCG8 gene, called sterolin-2, has been identified as a risk factor for atherosclerosis, a disease characterized by the buildup of plaque in the arteries. Studies have shown that individuals with this genetic variant have higher levels of plant sterols in their blood, which can contribute to the development of atherosclerosis.

In addition to atherosclerosis, genetic changes in the ABCG8 gene have also been linked to other health conditions. Sitosterolemia, for example, is a rare genetic disorder characterized by the accumulation of plant sterols in the body. This condition is caused by mutations in both the ABCG8 and ABCG5 genes, which encode sterol transporters. Individuals with sitosterolemia may experience symptoms such as skin changes, gallbladder disease, and central nervous system abnormalities.

To find more information on health conditions related to genetic changes in the ABCG8 gene, various scientific resources and databases can be explored. Online databases such as OMIM and PubMed provide access to articles, studies, and references where researchers have cataloged information about these genetic changes and their association with different diseases.

Genetic testing can also be utilized to identify specific variants and polymorphisms in the ABCG8 gene. This can help individuals understand their genetic risk for certain health conditions. Additionally, genetic testing may be recommended in cases where there is a family history of certain diseases or when symptoms related to ABCG8 gene variants are present.

Overall, the ABCG8 gene plays a crucial role in cholesterol metabolism and mutations in this gene can lead to various health conditions. By understanding the relationship between genetic changes in the ABCG8 gene and specific diseases, individuals can take appropriate steps to manage their health and seek appropriate medical advice.

Sitosterolemia

Sitosterolemia is a rare genetic disease that affects the body’s ability to properly transport and eliminate plant sterols, such as sitosterol, campesterol, and stigmasterol. These plant sterols are similar in structure to cholesterol and can accumulate in various tissues, causing a range of symptoms and health conditions.

Individuals with sitosterolemia may experience skin disorders, such as xanthomas, which are fatty deposits under the skin. They may also have elevated blood levels of plant sterols, leading to a higher risk of atherosclerosis and cardiovascular disease.

The ABCG8 gene, also known as sterolin-2, is responsible for encoding a protein involved in transporting plant sterols out of cells. Mutations in this gene can disrupt the normal function of the protein, leading to sitosterolemia.

Diagnosis of sitosterolemia typically involves genetic testing to identify changes or variants in the ABCG8 gene. Additional tests may be performed to measure the levels of plant sterols in the blood, as well as to assess the function of the liver and gallbladder.

Sitosterolemia is a lifelong condition, and treatment focuses on managing symptoms and reducing the risk of complications. This may include dietary modifications, such as reducing the intake of plant sterols, and the use of medications that inhibit the absorption of plant sterols.

For more information on sitosterolemia, related genetic changes, and associated health conditions, the following resources may be helpful:

Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
PubMed – a database of scientific articles with information on sitosterolemia and related topics
Genetic Testing Registry – provides information on genetic tests for sitosterolemia and other genetic conditions
Sterolin Gene Polymorphisms and Diseases – an article with references to scientific publications on the sterolin gene and associated diseases

By accessing these resources, individuals can stay informed about the latest research and advances in the understanding and treatment of sitosterolemia.

Other disorders

In addition to sitosterolemia, mutations in the ABCG8 gene have been associated with other disorders. These conditions include:

Sitosterolemia: Sitosterolemia is a rare genetic disorder characterized by the accumulation of plant sterols like sitosterol in the body. Mutations in both the ABCG5 and ABCG8 genes, which form a sub-family of ATP-binding cassette (ABC) transporters, lead to the impaired transport of sterols out of the body. Sitosterolemia can result in symptoms like xanthomas (fatty deposits under the skin), atherosclerosis, and gallbladder and liver disease.
Other genetic disorders: Some genetic disorders, unrelated to sitosterolemia, have also been associated with mutations in the ABCG8 gene. Changes in this gene have been identified in individuals with gallbladder cancer, where ABCG8 variant levels are elevated in cancerous tissues compared to adjacent noncancerous tissues. Further studies are needed to fully understand the role of ABCG8 in these diseases.

For more information about these disorders, scientific articles, and genetic test resources, the following databases and registries can be consulted:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the ABCG8 gene, including its aliases and related diseases.
PubMed: PubMed is a database of scientific articles, providing references and citation information for research related to the ABCG8 gene and its associated disorders.
The Human Gene Mutation Database: This database is a comprehensive collection of gene mutations associated with human genetic diseases and provides information about the genetic variations in the ABCG8 gene.
The Online Registry for Mutations in Sitosterolemia and Other Sterol-related Disorders: This registry aims to collect and maintain information about mutations in genes such as ABCG8, allowing for better understanding of these disorders and the development of diagnostic tests.

It is important to consult these resources and healthcare professionals for accurate and up-to-date information on the ABCG8 gene and its related disorders. Genetic testing may be recommended to diagnose these conditions, especially in individuals with symptoms or a family history of sitosterolemia or other sterol-related disorders.

Other Names for This Gene

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sterolin-2
sitosterolemia
pubmed

The ABCG8 gene, also known as sterolin-2, is associated with the genetic disorder sitosterolemia. According to Pubmed, this gene is involved in the transporters ABCG5 and ABCG8, which are responsible for regulating the levels of plant sterols in the body.

Sitosterolemia is a rare genetic disorder that affects the normal function of the ABCG8 gene. It results in the accumulation of plant sterols in the blood, gallbladder, and other tissues throughout the body. This can lead to various health conditions, including atherosclerosis and biliary ducts disorders.

Studies have shown that changes in this gene, such as genetic variants and polymorphisms, are associated with these disorders. Additional information about this gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man).

Additional Information Resources

Here are some additional resources where you can find more information about the ABCG8 gene:

OMIM (Online Mendelian Inheritance in Man): This is a comprehensive catalog of human genes and genetic disorders. You can find information about the ABCG8 gene and related diseases on their website.
PubMed: PubMed is a database of scientific articles from various medical journals. You can search for articles about the ABCG8 gene, its functions, and any disease conditions associated with it.
Genetic Testing Registry: This registry provides information about genetic tests for various genes, including the ABCG8 gene. You can find details about different tests, their purposes, and the laboratories that offer them.
Genetics Home Reference: This resource provides consumer-friendly information about genes, genetic conditions, and the role of genetics in health. You can learn more about the ABCG8 gene and how changes in this gene can lead to different health conditions.
PUBMED Central: PUBMED Central is a free full-text archive of biomedical and life sciences journal literature. You can find citation and full-text articles about the ABCG8 gene and its variants, including their effects on the body and related diseases.
References: These are additional scientific articles and resources that provide in-depth information about the ABCG8 gene, its variants, and their associations with conditions like sitosterolemia, atherosclerosis, and gallbladder diseases.

Tests Listed in the Genetic Testing Registry

The ABCG8 gene, also known as sterolin-2, belongs to the ATP-binding cassette (ABC) transporter sub-family G. It is involved in the transport of sterols and other lipids across cell membranes in the body. Variations in this gene have been associated with conditions such as sitosterolemia, a rare disorder characterized by high levels of plant sterols in the blood, and atherosclerosis, a disease that narrows and hardens the arteries.

Genetic testing for the ABCG8 gene can provide valuable information about an individual’s risk for developing these and related disorders. The Genetic Testing Registry (GTR), a central resource for genetic test information, lists the following tests related to the ABCG8 gene:

Sitosterolemia – this test analyzes the ABCG8 gene for specific changes or variants associated with sitosterolemia. It can help diagnose individuals with high blood levels of plant sterols and guide appropriate treatment.
Atherosclerosis – this test examines the ABCG8 gene for genetic changes or polymorphisms that may increase the risk of developing atherosclerosis. It can aid in determining an individual’s susceptibility to this cardiovascular disease.

The GTR provides additional resources and references to scientific articles, databases, and health resources where more information about these tests and related conditions can be found. Relevant publications can be found on PubMed, a database of scientific articles, by using the gene or protein name as a search term (ABCG8 or sterolin-2).

It is important to note that the GTR is constantly being updated with new tests and information. Therefore, it is recommended to regularly consult the GTR for the most up-to-date and comprehensive information on genetic tests related to the ABCG8 gene.

Scientific Articles on PubMed

PubMed is one of the most well-known and widely used databases for accessing scientific articles and research studies. It provides a vast collection of articles related to various fields of study. When it comes to the topic of the ABCG8 gene, PubMed offers a multitude of references and resources.

The ABCG8 gene is responsible for encoding a protein that is involved in the transport of sterols, such as cholesterol and sitosterol, across cell membranes. Mutations or variations in this gene can lead to changes in the levels of sterolin-2, which can result in diseases and disorders.

Many scientific articles listed on PubMed provide valuable information about the ABCG8 gene and its association with various conditions. For example, studies have shown that genetic changes in this gene are related to atherosclerosis and gallbladder diseases. These articles highlight the importance of understanding the genetic basis of these diseases and how they can be diagnosed and treated through genetic testing.

In addition to the ABCG8 gene, PubMed also provides information about other related genes and genetic changes, such as polymorphisms, in the transporters and pump genes that are involved in the regulation of sterol levels in the body. These articles provide insights into the mechanisms and pathways involved in the transport and metabolism of sterols, which can be helpful in understanding various diseases and conditions.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides references and genetic resources for various genetic disorders and conditions.

OMIM contains information about a wide range of diseases, including sitosterolemia, atherosclerosis, and skin and blood disorders. It lists the names of these conditions and provides genetic testing information.

One example of a gene related to a disease listed in OMIM is the ABCG8 gene, which is associated with sitosterolemia. Sitosterolemia is a rare autosomal recessive disorder characterized by high levels of plant sterols. This condition can lead to atherosclerosis and gallbladder changes.

OMIM provides information from scientific articles and databases, including PubMed. It cites articles that discuss genetic variants, polymorphisms, and changes in gene expression levels. These references are valuable for researchers and healthcare professionals.

In addition to the catalog of genes and diseases, OMIM also includes a registry of genetic testing laboratories. This registry provides information about the tests offered by different laboratories for specific genetic disorders.

OMIM serves as a central resource for genetic information, providing a comprehensive catalog of genes and diseases. It is a valuable tool for researchers, healthcare professionals, and individuals seeking information about genetic disorders.

Gene and Variant Databases

In the field of genetics, gene and variant databases play a crucial role in providing valuable information on various genetic conditions and related genes. These databases serve as a vital resource for researchers, scientists, and healthcare professionals.

One of the most popular and widely used databases is PubMed. It is a comprehensive scientific database that provides access to a vast collection of articles related to genetics, including studies on the ABCG8 gene. Researchers can find information on the genetic changes, polymorphisms, and variants of this gene through PubMed.

Another important database is the ABCG8 gene variant catalog. This catalog gathers and consolidates data from different resources, such as scientific articles, journals, and genetic testing labs. It provides information on genetic variants and their association with specific diseases and conditions.

The OMIM database is also a valuable resource, providing detailed information on genetic disorders, including those related to the ABCG8 gene. It includes information on the clinical features, inheritance patterns, and molecular basis of these disorders.

In addition to these databases, there are several other resources available for researchers and healthcare professionals. These include gene and variant registries, where individuals with specific genetic conditions can register themselves and provide information on their genetic changes.

The Human Gene Mutation Database (HGMD) is another important resource, providing information on genetic mutations and their association with diseases. It includes information on the ABCG8 gene and its variants.

Furthermore, genetic testing laboratories often maintain their own databases, which contain information on genetic changes and variants identified in their tests. These databases are an essential tool for diagnosing and managing genetic conditions.

Overall, gene and variant databases provide a wealth of information on the ABCG8 gene and its variants, allowing researchers and healthcare professionals to better understand the genetic basis of diseases and develop effective treatments and interventions.

References

OMIM: Online Mendelian Inheritance in Man. A catalog of human genes and genetic disorders. Available at: https://omim.org
PubMed: A database of scientific articles on various topics. Provides information about genetic testing, diseases, and other related subjects. Available at: https://pubmed.ncbi.nlm.nih.gov/

Please note that the mentioned resources are not exhaustive, and additional references can be found in scientific articles and databases.

Sitosterolemia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

TMCO1 gene

Idiopathic inflammatory myopathy

SADDAN

Health Conditions Related to Genetic Changes

Sitosterolemia

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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