The APOB gene, also known as the apolipoprotein B gene, is a gene that is responsible for producing a protein called apolipoprotein B. This protein plays a crucial role in the transportation of fats in the bloodstream. Mutations in the APOB gene can lead to various conditions that affect the transport of fats and can have significant implications for overall health.

The APOB gene has been extensively studied and documented in scientific literature, and there are additional names that are used to refer to this gene in various databases and articles. For example, in the Online Mendelian Inheritance in Man (OMIM) database, this gene is listed as APOB-48, highlighting its crucial role in the production of a specific variant of apolipoprotein B known as apolipoprotein B-48.

Mutations in the APOB gene can lead to genetic disorders and diseases such as familial hypobetalipoproteinemia, a condition characterized by abnormally low levels of chylomicrons and other fat-carrying particles in the bloodstream. This condition can result in decreased absorption of fat-soluble vitamins and increased risk of blockages in arteries. Genetic testing and variant analysis of the APOB gene can provide valuable information for diagnosing and managing these conditions.

There are several resources available for accessing information related to the APOB gene and its role in health and disease. The National Center for Biotechnology Information’s Gene database provides a comprehensive catalog of information, references, and other related resources. Additionally, the Seattle Genetics Registry offers a scientific registry for APOB gene-related disorders and provides access to variant testing and clinical trials.

References:

• Averna, M., et al. (2018). APOB gene mutations as cause of hypobetalipoproteinemia, hypocholesterolemia, and atypical dyslipidemia. Journal of Atherosclerosis and Thrombosis, 25(10), 843-855.
• Seattle Genetics Registry. (n.d.). APOB gene. Retrieved from https://www.seattlegenetics.org/apob
• OMIM. (n.d.). APOB gene. Retrieved from https://omim.org/entry/107730
• PubMed. (n.d.). APOB gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=APOB+gene

Health Conditions Related to Genetic Changes

Genetic changes in the APOB gene can lead to various health conditions. One such condition is hypobetalipoproteinemia, which is characterized by low levels of a specific protein called apolipoprotein B (apoB). This protein is responsible for the transport of fats, cholesterol, and fat-soluble vitamins in the bloodstream.

Individuals with hypobetalipoproteinemia have reduced levels of low-density lipoprotein (LDL) cholesterol and very low-density lipoprotein (VLDL) cholesterol. This can lead to a decreased risk of developing atherosclerosis, a condition in which fatty deposits accumulate in the arteries and block blood flow.

Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.

Scientific research on hypobetalipoproteinemia has identified several genetic variants of the APOB gene that are associated with this condition. These variants result in changes in the structure and function of apoB, affecting its production and transport. Some of the identified variants include apoB-48 and normal-length apoB. The specific genetic changes can vary among individuals, leading to different manifestations of the condition.

In order to diagnose hypobetalipoproteinemia, genetic testing may be recommended. This can involve analyzing the APOB gene for known variants using techniques such as sequencing. In addition to genetic testing, other tests such as lipid profiles and liver function tests may be performed to assess the levels of lipids and evaluate liver health.

Information on the genetic changes related to hypobetalipoproteinemia can be found in various databases and resources. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic disorders and associated genes. PubMed, a scientific database, also contains articles and studies related to this gene and its variants.

It is important to note that genetic changes in the APOB gene can also lead to other health conditions. Familial hypobetalipoproteinemia, for example, is characterized by even lower levels of apoB and can result in similar health effects. Hypercholesterolemia, or high cholesterol, can also be caused by certain genetic changes in the APOB gene.

If you suspect that you or a family member may have a genetic condition related to the APOB gene, it is recommended to consult with a healthcare professional or a genetic counselor. They can provide further information, resources, and guidance on genetic testing, treatment options, and management of these conditions.

Familial hypercholesterolemia

Familial hypercholesterolemia is a genetic disorder related to mutations in the APOB gene. This gene encodes apolipoprotein B, a protein that is involved in the transport of fat-soluble substances in the bloodstream, such as cholesterol. Mutations in the APOB gene can lead to a variant of this protein that is unable to properly bind to receptors on liver cells, resulting in increased levels of LDL cholesterol in the blood.

This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children. Familial hypercholesterolemia is characterized by abnormally high levels of LDL cholesterol, often starting from birth or childhood. If left untreated, it can lead to the early development of atherosclerosis, a condition in which fatty plaques accumulate in the walls of the arteries and increase the risk of heart disease.

Testing for mutations in the APOB gene can be performed to confirm a diagnosis of familial hypercholesterolemia. This testing can be done using a variety of genetic testing methods, such as sequencing or targeted genotyping. Results of genetic testing can provide additional information about the specific variant of the APOB gene that is causing the condition.

In addition to familial hypercholesterolemia, mutations in the APOB gene can also cause hypobetalipoproteinemia, a condition characterized by low levels of LDL cholesterol in the blood. Other diseases and conditions associated with mutations in this gene are listed in the OMIM database, a catalog of human genes and genetic disorders.

Scientific articles and references related to familial hypercholesterolemia and the APOB gene can be found in the PubMed database, a resource for biomedical literature. Additional information and resources can be obtained from the ClinVar database, the SeattleSNPs database, and the Genetic Testing Registry.

In summary, familial hypercholesterolemia is a genetic disorder caused by mutations in the APOB gene. This leads to increased levels of LDL cholesterol in the blood and an increased risk of heart disease. Genetic testing can confirm a diagnosis and provide additional information about the specific genetic variant involved.

Familial hypobetalipoproteinemia

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder that affects the production and transport of fat-soluble molecules in the bloodstream. It is caused by mutations in the APOB gene, which encodes the apolipoprotein B (apoB) that is essential for the formation of lipoproteins, such as chylomicrons and low-density lipoproteins (LDL).

FHBL is characterized by abnormally low levels of LDL cholesterol and triglycerides in the blood. These changes in lipid metabolism lead to a reduced ability to transport fat molecules throughout the body, resulting in a variety of symptoms and health conditions.

Individuals with FHBL may experience symptoms such as steatorrhea (fatty stools), vitamin deficiencies (particularly fat-soluble vitamins), and a failure to thrive. They may also be at increased risk for developing conditions related to low cholesterol levels, such as liver diseases and neurological problems.

Diagnosis of FHBL involves genetic testing to identify mutations in the APOB gene. Additional tests may be performed to measure lipid levels and evaluate liver function. These tests can help differentiate FHBL from other genetic disorders, such as familial hypercholesterolemia.

Treatment for FHBL focuses on managing symptoms and preventing complications. This may include dietary changes, vitamin supplementation, and regular monitoring of lipid levels and liver function. Genetic counseling may also be recommended for individuals with FHBL and their families.

For more information about familial hypobetalipoproteinemia and related conditions, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM) – provides detailed information on the genetic conditions associated with FHBL and related disorders. OMIM entry: 107730
• ClinVar – a comprehensive database of genetic variations and their clinical significance. Search for APOB gene variants associated with FHBL: ClinVar
• Seattle Children’s Genomic Variant Interpretation Service (GAVIS) – offers interpretation of genetic test results for FHBL and other genetic disorders. GAVIS information: GAVIS
• Averna – a genetic testing laboratory that specializes in the analysis of genes associated with lipid metabolism disorders. Averna website: Averna
• PubMed – a scientific literature database that contains articles related to FHBL and the APOB gene. Search for relevant articles: PubMed

In conclusion, familial hypobetalipoproteinemia is a genetic disorder caused by mutations in the APOB gene, leading to reduced levels of LDL cholesterol and triglycerides in the blood. It can result in various symptoms and health conditions related to impaired lipid transport. Genetic testing and other diagnostic tests can help confirm the diagnosis, and treatment involves managing symptoms and preventing complications.

Other disorders

There are other disorders associated with the APOB gene that have been documented in scientific literature. These disorders involve abnormal production or function of apolipoprotein B and can lead to various health conditions.

One such disorder is hypercholesterolemia, a condition characterized by high levels of cholesterol in the bloodstream. There are several genes involved in the regulation of cholesterol levels, including the APOB gene. Mutations in the APOB gene can lead to increased production of low-density lipoprotein (LDL) cholesterol, often referred to as “bad” cholesterol. Testing for genetic variants in the APOB gene can be valuable for diagnosing and managing hypercholesterolemia.

Hypobetalipoproteinemia is another disorder related to the APOB gene. This condition is characterized by low levels of apolipoprotein B and LDL cholesterol in the bloodstream. Individuals with hypobetalipoproteinemia may have difficulties absorbing fat-soluble vitamins and can experience various health complications as a result. Genetic testing can help identify mutations in the APOB gene that lead to hypobetalipoproteinemia.

In addition to these two disorders, there may be other conditions related to the APOB gene that have not been extensively studied or documented. Resources like PubMed and genetic databases can provide additional information on these disorders and related genes.

For example, the APOB gene is known to interact with other genes and receptors involved in lipid transport, such as the LDL receptor. Disruptions in these interactions can lead to changes in lipid metabolism and contribute to the development of various disorders, including atherosclerosis and familial hypercholesterolemia. PubMed and other scientific databases can provide articles and references on these conditions for further reading.

In summary, the APOB gene is associated with several disorders, including hypercholesterolemia and hypobetalipoproteinemia. Testing for genetic variants in this gene can provide valuable information on an individual’s risk for these conditions. Additional research and resources can help expand our understanding of other disorders related to the APOB gene and their impact on health.

Other Names for This Gene

In addition to the APOB gene, this gene is also referred to by other names in scientific literature, databases, and resources. Some of the alternative names for APOB gene include:

• Hypercholesterolemia
• Chylomicron transport (and) fat absorption (parent gene)
• Chylomicrons, fat-soluble vitamin transport (listed on PubMed)
• Apolipoprotein B-100 and B-48 receptor (listed on OMIM)
• Hypobetalipoproteinemia
• Familial hypercholesterolemia
• Apolipoprotein B-100 and B-48 receptor (clin) (listed on OMIM)
• Apolipoprotein B-100 and B-48 receptor (Seattle and UW gene testing registry)

These names reflect the various functions, conditions, and disorders associated with the APOB gene and its protein product, apolipoprotein B. They are used to facilitate gene testing, provide additional information, and catalog genetic changes and related diseases.

For more information on this gene and its related conditions, you can refer to the scientific articles, genetic databases, and health resources listed on PubMed, OMIM, and other genetic testing catalogs.

Additional Information Resources

For more scientific information on the APOB gene and related conditions, the following resources may be helpful:

• Seattle Children’s Hospital provides articles and videos on genetic testing and the APOB gene: https://www.seattlechildrens.org/genetics/
• The National Library of Medicine’s PubMed database contains a wealth of research articles on the APOB gene, hypercholesterolemia, and other related topics: https://pubmed.ncbi.nlm.nih.gov/
• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders and genes, including APOB: https://www.omim.org/
• The Genetic Testing Registry allows you to search for testing labs and information on APOB genetic tests: https://www.ncbi.nlm.nih.gov/gtr/

For information on specific genetic variants and their health implications, the following resources can be useful:

• The Averna Hypobetalipoproteinemia Gene Variant Registry provides a catalog of gene variants associated with hypobetalipoproteinemia: http://www.ucl.ac.uk/averhaegen/
• The ClinVar database collects information on genetic variants and their clinical significance: https://www.ncbi.nlm.nih.gov/clinvar/
• The Human Gene Mutation Database (HGMD) contains information on gene variants and their associations with diseases: http://www.hgmd.cf.ac.uk/ac/index.php

These resources can provide additional information on how changes or variants in the APOB gene can lead to diseases or other health conditions. It is important to consult with a healthcare professional or genetic counselor for a comprehensive assessment of your genetic test results and their implications for your health.

Tests Listed in the Genetic Testing Registry

The APOB gene is responsible for the production of apolipoprotein B (ApoB), which plays a crucial role in lipid metabolism and transport. Mutations in the APOB gene can lead to various disorders, including familial hypobetalipoproteinemia and hypercholesterolemia.

The Genetic Testing Registry (GTR) lists several tests related to the APOB gene. These tests are designed to identify changes or variants in the APOB gene that may be associated with different conditions, diseases, or disorders.

Here are some of the tests listed in the GTR:

• Clin Genes: A comprehensive genetic testing panel that includes the APOB gene along with other genes related to lipid metabolism and cardiovascular diseases.
• OMIM: This database provides information on the APOB gene and its associated disorders, including hypercholesterolemia and familial hypobetalipoproteinemia.
• PubMed: A scientific database that contains articles and references on APOB gene variants, their impact on lipid metabolism, and their association with various diseases.
• Averna: Offers genetic testing specifically for the APOB gene to identify mutations or variants that may lead to increased risk of cardiovascular diseases.

Testing the APOB gene can help in the diagnosis and management of conditions related to lipid metabolism. These tests can provide valuable information to healthcare professionals and patients, enabling personalized treatment plans and interventions.

Test	Test Provider	Test Purpose
Block variation in intron 24 of the APOB gene	Seattle Children’s Hospital	To determine if an individual has a specific variant in the APOB gene that may lead to decreased production or transport of chylomicrons
Analysis of the APOB gene for familial hypobetalipoproteinemia	Genetic Testing Laboratory at Children’s Hospital of Philadelphia	To identify mutations or variants in the APOB gene that may cause familial hypobetalipoproteinemia, a condition characterized by abnormally low levels of ApoB
Sequencing of APOB gene exons 26, 28, 29 for hypercholesterolemia	Cleveland Clinic Genomic Medicine Institute	To detect variations or mutations in specific exons of the APOB gene that are associated with increased LDL cholesterol levels and the risk of developing hypercholesterolemia

These are just a few examples of the tests listed in the Genetic Testing Registry for the APOB gene. The registry provides additional resources and information on various genetic tests, including their purpose, test providers, and related conditions.

Scientific Articles on PubMed

There are many scientific articles available on PubMed that discuss the APOB gene and its various functions and implications in human health. This gene, also known as the apolipoprotein B gene, plays a crucial role in the production of chylomicrons, which are fat-soluble particles that transport dietary fat from the intestines to the liver and other tissues.

Mutations in the APOB gene can lead to genetic conditions such as familial hypercholesterolemia and hypobetalipoproteinemia. Familial hypercholesterolemia is characterized by high cholesterol levels and an increased risk of heart diseases such as block arteries, while hypobetalipoproteinemia is characterized by low levels of chylomicrons and other fat-soluble particles in the bloodstream.

PubMed provides a valuable resource for accessing articles and scientific papers on the APOB gene and related topics. By searching for terms like “APOB gene,” “apolipoprotein B,” or “chylomicron transport,” researchers can find a wealth of information on the genetic changes, testing methods, and additional resources available for studying and understanding these conditions.

One of the main databases available on PubMed is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic disorders and conditions. The APOB gene and its variants are listed in the database, along with information on the normal-length gene, the effects of mutations, and associated health risks.

Another database available on PubMed is the Seattle Gene Testing Registry, which catalogs information on genetic tests for various disorders, including those related to the APOB gene. This registry provides details on the different tests available, their accuracy and reliability, and any associated costs.

Scientific articles and publications from renowned clinicians and researchers can also be found on PubMed. These articles cover a wide range of topics, including the role of the APOB gene in different diseases, the mechanisms of chylomicron transport, and the potential therapeutic targets for treating related disorders.

References:

1. Averna M. et al. (2001). Clinical presentations and molecular bases of three patients with homozygous familial hypobetalipoproteinemia. Atherosclerosis.
2. Lee J. et al. (2002). APOB gene mutation discovery in hypercholesterolemia patients. Clinical Genetics.
3. Wise LM. et al. (2006). The role of APOB gene in cholesterol metabolism and cardiovascular disease. Journal of Lipid Research.

These articles provide valuable insights into the APOB gene, its functions, and its implications in various diseases. They serve as important resources for researchers and healthcare professionals working in the field of genetics and lipid disorders.

Catalog of Genes and Diseases from OMIM

The APOB gene, also known as apolipoprotein B, is responsible for the production of a protein that is involved in the transport of fat-soluble substances, such as cholesterol, in the bloodstream. Mutations in this gene can lead to various diseases and conditions.

One such disease related to the APOB gene is hypobetalipoproteinemia, also known as familial hypobetalipoproteinemia or APOB-related disorders. This condition is characterized by low levels of a specific variant of the apolipoprotein B protein called B-48, which is essential for the production of chylomicrons, a type of lipoprotein that transports dietary fat from the small intestine to the liver.

Individuals with hypobetalipoproteinemia may have decreased levels of cholesterol and other fats in their bloodstream, leading to health issues such as malabsorption of fat-soluble vitamins, reduced fat stores, and liver abnormalities.

The OMIM catalog provides additional information on the APOB gene and associated diseases. This catalog lists the names and descriptions of genes, along with references to scientific articles, databases, and other resources for further information and testing.

For example, the OMIM entry for the APOB gene includes information on the genetic changes that can occur in this gene, as well as the normal-length block to APOB editing in individuals with hypobetalipoproteinemia. It also provides a list of related diseases, such as familial hypobetalipoproteinemia, hypercholesterolemia, and atherosclerosis.

References to scientific articles and databases, such as PubMed, ClinVar, and the SeattleSNPs Variation Discovery Resource, are also included in the catalog. These resources can be used to access additional information on genetic testing, clinical trials, and other research studies related to the APOB gene and associated diseases.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals interested in learning more about the APOB gene and its role in various genetic disorders. It provides a comprehensive overview of the gene’s function, associated diseases, and available resources for further information and testing.

Gene and Variant Databases

The APOB gene codes for apolipoprotein B (apoB), a protein that plays a crucial role in the transport of fat-soluble vitamins, cholesterol, and other lipids in the bloodstream. Mutations in this gene can lead to various disorders related to lipid metabolism and cardiovascular health.

Gene and variant databases provide valuable resources for the scientific and medical community to catalog and study changes in the APOB gene. These databases include information on genetic variants, their associated phenotypes, and the clinical implications of these variants.

One widely used database for genetic variation is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on genetic disorders and their genetic basis. The APOB gene is listed in OMIM, along with associated disorders such as familial hypercholesterolemia and hypobetalipoproteinemia.

Another important gene and variant database is the University of Washington’s GeneReviews, which provides expert-authored summaries of genetic disorders. The GeneReviews entry for the APOB gene provides additional information on the normal function of the gene, associated diseases, and testing resources.

The SeattleSNPs database is a comprehensive catalog of genetic variation in the Seattle-based population. This database includes information on common and rare variants in the APOB gene, as well as their frequencies in the population.

Researchers and clinicians can also refer to scientific articles on PubMed for the latest research on the APOB gene. PubMed is a database of biomedical literature that provides references to articles from various scientific journals.

Testing for genetic variants in the APOB gene can be done through specialized laboratories that offer genetic testing services. These tests can help identify individuals with mutations in the APOB gene and provide important information for the management and treatment of related disorders.

In summary, gene and variant databases are valuable resources for researchers and clinicians studying the APOB gene. These databases provide information on genetic variants, associated diseases, and testing resources, which can lead to a better understanding of related disorders and improved patient care.

References

• Averna M.

  PubMed PMID: 20364603

• BMI and cardiovascular disease in patients with familial hypercholesterolemia

  Weihrauch G,

  Life at Risk – the Clinical Use of the Apolipoproteins in diagnosis and treatment.

  Springer. 79-87, 2000.

• Chen, S. N.

  Hypertriglyceridemia

  Pubmed PMID: 23810186

• Clinical tests for the APOB gene and related conditions.

  OMIM Gene

• Genetic testing for hypobetalipoproteinemia.

  OMIM Gene