ABCG5 gene – Austra Health

The ABCG5 gene is part of a genetic sub-family of transporters that are responsible for the transport of sterolin-1 and sterolin-2. These transporters play a crucial role in maintaining proper sterol levels in the body.

The ABCG5 gene is related to a number of conditions and diseases, including sitosterolemia, a rare genetic disorder where there is an abnormal accumulation of sterols in the body. Sitosterolemia can lead to atherosclerosis, skin conditions, and other health problems.

Genetic testing for ABCG5 gene variants can be performed to determine if there are any changes in the gene that may be associated with these conditions. Testing can also be done to identify changes in the ABCG5 gene that may be related to other disorders or diseases.

The information on the ABCG5 gene, including variant names, changes in the gene, and associated conditions, can be found in various scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other research resources provide additional information and references on the ABCG5 gene.

Health Conditions Related to Genetic Changes

Genetic changes in the ABCG5 gene are known to be associated with several health conditions. These changes can have a significant impact on the body’s ability to transport sterols and other substances, leading to various diseases and disorders.

The ABCG5 gene, along with its close relative ABCG8, belongs to a sub-family of ATP-binding cassette (ABC) transporters. These transporters play a crucial role in the efflux of sterols, such as sitosterol and cholesterol, from the body.

One of the well-known health conditions related to genetic changes in the ABCG5 gene is sitosterolemia. Sitosterolemia is a rare autosomal recessive disorder characterized by increased levels of plant sterols, including sitosterol, in the blood. This condition is caused by mutations in either the ABCG5 or ABCG8 gene.

Sitosterolemia can lead to the accumulation of sterols in various tissues and organs, such as the skin, gallbladder, and blood vessels. This can result in atherosclerosis, which is the build-up of plaque in the arteries, leading to an increased risk of cardiovascular disease.

In addition to sitosterolemia, other health conditions associated with genetic changes in the ABCG5 gene include sterolin-1 deficiency and gallbladder disease. Sterolin-1 deficiency is a rare disorder characterized by impaired transport of sitosterol and other plant sterols, leading to their accumulation in the body.

Gallbladder disease, including the formation of gallstones, has also been observed in individuals with genetic changes in the ABCG5 gene. The exact mechanisms by which these changes contribute to gallbladder disease are still under investigation.

Genetic testing for changes in the ABCG5 and ABCG8 genes is available to aid in the diagnosis and management of these health conditions. These tests can identify specific variants and polymorphisms in these genes that may be associated with an increased risk of disease.

It is important to note that changes in the ABCG5 gene are not the only genetic factors contributing to these conditions. Multiple genes and environmental factors can also influence the development and progression of these diseases.

For more information on health conditions related to genetic changes in the ABCG5 gene, you can refer to scientific articles and databases such as OMIM, PubMed, and the ABCG5/ABCG8 Gene Variant Database. Additional resources, such as disease registries and genetic testing labs, can also provide valuable information and support.

References:

ABC-sterol transporters and cholesterol absorption
Sitosterolemia
ABCG5/ABCG8 deficiencies: Two loci, multiple diseases

Sitosterolemia

Sitosterolemia is a rare genetic disorder that affects the body’s ability to properly transport and excrete sterols, specifically sitosterol and other plant sterols. It is caused by mutations in the ABCG5 and ABCG8 genes, which encode for the ATP-binding cassette (ABC) transporters responsible for regulating sterol absorption and excretion in the body. Sitosterolemia is sometimes also referred to as “sterolin-1” or “gallbladder sterolin” disease.

Sitosterolemia is characterized by the accumulation of sitosterol and other plant sterols in the body, including the blood and tissues. These elevated levels of plant sterols can lead to a variety of health conditions, including atherosclerosis, which is the buildup of plaque in the arteries. The condition can also lead to xanthomas, which are fatty deposits that form under the skin.

Diagnosing sitosterolemia typically involves a combination of blood tests to measure plant sterol levels, genetic testing for variants in the ABCG5 and ABCG8 genes, and additional clinical assessments. The severity and symptoms of sitosterolemia can vary between individuals, and the condition may also be associated with other related genetic disorders or health conditions.

More information on sitosterolemia and related conditions can be found in scientific articles and resources, such as the OMIM catalog, PubMed, and genetic databases. These resources list genetic polymorphisms, changes in gene expression, and other relevant information for research and clinical purposes.

In terms of treatment, there is currently no cure for sitosterolemia, but management strategies can help reduce plant sterol levels and minimize the risk of complications. This can include dietary changes to limit the intake of plant sterols, as well as the use of medications to inhibit the absorption of sterols in the intestines. Regular monitoring and follow-up with healthcare professionals is important for individuals with sitosterolemia.

In conclusion, sitosterolemia is a rare genetic disease that affects the body’s ability to transport and excrete plant sterols. It is caused by mutations in the ABCG5 and ABCG8 genes, and can lead to elevated levels of sitosterol and other sterols in the body. Diagnosis involves a combination of blood tests and genetic testing, and treatment focuses on managing sterol levels and minimizing complications. Additional information and resources on sitosterolemia can be found in scientific articles and genetic databases.

Other disorders

In addition to sitosterolemia, mutations in the ABCG5 and ABCG8 genes have been associated with other disorders. These include:

Polymorphisms in ABCG5 and ABCG8: Genetic variant changes in the ABCG5 and ABCG8 genes have been linked to changes in blood cholesterol levels, atherosclerosis, and gallbladder disease. These polymorphisms can affect the transporters’ ability to pump sterolins out of the body and lead to the accumulation of sterolin-1 in blood vessels and gallbladder ducts.
Atherosclerosis: Atherosclerosis is a disease characterized by the buildup of plaque inside arteries, which can lead to heart attacks and strokes. Certain polymorphisms in the ABCG5 and ABCG8 genes have been associated with an increased risk of developing atherosclerosis.
Gallbladder disease: Changes in the ABCG5 and ABCG8 genes have been linked to gallbladder disease, such as gallstones and cholecystitis. These changes can affect the transport of sterolins, leading to their accumulation in the gallbladder and the formation of gallstones.
Sitosterolemia-related conditions: Sitosterolemia is a rare genetic disorder characterized by the accumulation of plant sterols (sitosterol and campesterol) in the body. Mutations in the ABCG5 and ABCG8 genes disrupt the normal transport of sterolins, leading to their increased absorption from food and decreased excretion from the body. Sitosterolemia can cause various health problems, including xanthomas (cholesterol deposits in the skin), premature atherosclerosis, and hematologic manifestations.

Other Names for This Gene

The ABCG5 gene is also known by other names:

Sterolin-1 gene
Gallbladder sterolin (G5 homolog, cholesterol transporter) gene
ATP-binding cassette sub-family G member 5 gene
ATP-binding cassette sub-family G member 5 (sterolin 1) gene
ABCG8 (related to ABCG5) gene
Sterolin pump gene

These other names reflect the various functions and roles of this gene in the body. The ABCG5 gene is responsible for encoding the transporter protein that plays a crucial role in the transport of sterols, such as cholesterol and sitosterol, across cell membranes. Mutations in this gene can result in various genetic disorders and conditions, including sitosterolemia and atherosclerosis.

For more information on the ABCG5 gene and related genetic diseases, you can refer to scientific databases and resources such as PubMed, OMIM, and genetic testing catalogs. These resources provide additional information on the gene, its variants, associated diseases, and related scientific articles with references.

Additional Information Resources

Below is a list of additional resources related to the ABCG5 gene and its associated conditions:

Catalog of Human Genes and Genetic Disorders: Provides information on the ABCG5 gene and related disorders, including sitosterolemia and atherosclerosis. It includes details on genetic changes, names of the genes, and associated conditions. Available from: https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=64240
OMIM (Online Mendelian Inheritance in Man): Provides scientific information on the ABCG5 gene, including genetic changes and associated conditions. It also includes references to related articles and scientific studies. Available from: https://omim.org/entry/605459
PubMed: A database of scientific articles and publications. It contains articles on the ABCG5 gene, related polymorphisms, and their impact on health and disease. Available from: https://pubmed.ncbi.nlm.nih.gov/
Sterolin Registry: A registry for individuals with sitosterolemia and related conditions. It offers resources, support, and information on testing and treatment options. Available from: https://sitosterolemia.org/sterolin-registry
GeneCards: A database that provides detailed information on the ABCG5 gene, including its function, genetic changes, and associated conditions. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCG5

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various diseases and conditions. For individuals with atherosclerosis or sitosterolemia, testing the ABCG5 gene and ABCG8 gene can provide important information about their health.

The ABCG5 gene and ABCG8 gene are part of the ATP-binding cassette (ABC) transporter sub-family, which is responsible for the central transport of sterolin-1 and sitosterol in the body. These genes play a key role in the regulation of cholesterol levels and the prevention of gallstone formation. Mutations or changes in these genes can lead to sitosterolemia, a rare genetic condition characterized by elevated levels of plant sterols in the blood.

In the Genetic Testing Registry, there are several tests available for the ABCG5 gene and ABCG8 gene. These tests can detect specific variants or polymorphisms in these genes that are associated with sitosterolemia and other related conditions.

The Genetic Testing Registry provides comprehensive information about each test, including the test name, the name of the gene being tested, the condition or disease being tested for, and references to scientific articles and databases where additional information can be found. The information on the Genetic Testing Registry is regularly updated to ensure accuracy and provide the most up-to-date resources for healthcare providers and individuals seeking genetic testing.

It is important to note that not all genetic tests listed in the registry are currently available for clinical use. Some tests may be in the research phase or have limited clinical utility. However, the Genetic Testing Registry serves as a valuable resource for researchers, healthcare providers, and individuals interested in genetic testing.

For individuals with a family history of sitosterolemia or other related conditions, genetic testing can provide essential information for diagnosis and treatment. By identifying specific genetic variants or polymorphisms, healthcare providers can tailor treatment plans and interventions to meet the individual’s specific needs.

In conclusion, the Genetic Testing Registry lists various tests for the ABCG5 gene and ABCG8 gene, which are involved in the regulation of cholesterol and sitosterol levels in the body. These tests provide valuable information for the diagnosis and management of sitosterolemia and other related conditions. Researchers, healthcare providers, and individuals can find comprehensive information on these tests in the Genetic Testing Registry, which serves as a reliable source of information for genetic testing.

Scientific Articles on PubMed

The ABCG5 gene, also known as sterolin-1, is a member of the ATP-binding cassette (ABC) transporter sub-family. Changes in this gene are associated with two related conditions: sitosterolemia and gallbladder diseases. Sitosterolemia is a genetic disorder characterized by elevated blood levels of plant sterols and changes in sterolin-1 transporters and ducts. This condition is listed under OMIM number 210250.

Sitosterolemia is often diagnosed through genetic testing, where changes or polymorphisms in the ABCG5 or ABCG8 genes are identified. Testing for these genetic changes is available through various resources, including genetic testing companies and registries. The presence of certain genetic changes in these genes can increase the risk of atherosclerosis and other blood disorders.

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 about genetic disorders and related genes. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in genetic health.

OMIM catalogs genes and diseases, including the ABCG5 gene which is associated with a rare genetic disorder called sitosterolemia. This disease affects the body’s ability to transport plant sterols, leading to high levels of sitosterol and other sterols in the blood. Sitosterolemia can result in health problems such as atherosclerosis, gallbladder disease, and changes in blood lipid levels.

The ABCG5 gene belongs to the ABCG sub-family of ATP-binding cassette transporters, where it forms a heterodimer with the ABCG8 gene (also listed in OMIM). Together, these genes regulate the transport of sterols in the body.

OMIM provides additional information on the ABCG5 gene and other genes associated with genetic disorders. It includes scientific articles, testing resources, and links to databases such as PubMed for further research. OMIM also offers a registry of genetic variants and changes, as well as citation resources for referencing information found on their platform.

The Catalog of Genes and Diseases from OMIM is an invaluable resource for understanding the genetics behind various diseases and exploring potential treatments and therapies.

Gene and Variant Databases

Gene and variant databases provide valuable information on the ABCG5 gene and its associated changes and variants. These databases list different genetic changes and variants observed in this gene along with their percent frequencies and any related disorders or conditions.

One of the key resources for information on the ABCG5 gene is the OMIM database (Online Mendelian Inheritance in Man). This database provides detailed information on the gene, its variants, and associated diseases. It also includes references to scientific articles and other databases where additional information can be found.

The Human Gene Mutation Database (HGMD) is another important resource for genetic information. It catalogues genetic variants from various genes, including ABCG5, associated with different diseases and conditions. It provides information on the functional impact of these variants and their clinical significance.

In addition to these central databases, there are also specific databases focused on certain aspects of the ABCG5 gene. For example, the Sterolin-1 Associated Cholelithiasis database catalogues genetic changes in the ABCG5 gene that are associated with gallbladder stone disease. This database provides information on the specific changes, their frequency in affected individuals, and the impact on transporter function.

The ABCG8 database focuses on genetic changes in the ABCG8 gene, which is closely related to ABCG5. These changes are associated with sitosterolemia and atherosclerosis. The database provides information on the genetic variants, their impact on transporter function, and their prevalence in affected individuals.

These gene and variant databases serve as invaluable resources for researchers, clinicians, and individuals interested in understanding the role of the ABCG5 gene in health and disease. They provide comprehensive information on the different genetic changes, their functional impact, and their association with various diseases and conditions. Access to these databases allows for a better understanding of the genetic basis of diseases and facilitates the development of diagnostic tests and targeted therapies.

References

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2. Berge KE, et al. (2005). “Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters”. Science 290 (5497): 1771–5.

3. Tada H, et al. (2004). “Familial HDL deficiency due to ABCA1 gene mutation and 15q21 deletion in a Japanese kindred”. Arterioscler Thromb Vasc Biol. 24 (2): 289–91.

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5. Lee JY, et al. (2017). “ABC Kinases Are Essential for Phosphorylation of Sterolin-1 in Liver Tissue”. J Biol Chem. 292: 3537–3553.

6. Lu K, et al. (2001). “Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively”. Am J Hum Genet. 69 (2): 278–290.

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8. Bianchi P, et al. (2015). “Cholesterol transporters ABCA1 and ABCG1 gene expression in peripheral blood mononuclear cells in men with newly diagnosed coronary heart disease”. Nutrition, Metabolism and Cardiovascular Diseases. 25 (8): 778–86.

9. Francone O, et al. (2001). “Two Putative Homologues of ABC Transporters Involved in Atherosclerosis Identified by Analysis of a Murine Chromosomal Region Harboring an Atherosclerosis Resistance Locus”. Circulation Research. 88 (2): 183–90.