The MTTP gene, also known as the microsomal triglyceride transfer protein gene, is a gene that is related to genetic disorders affecting lipid metabolism. Mutations in this gene can lead to impaired absorption and transport of triglycerides and fat-soluble vitamins, resulting in diseases such as abetalipoproteinemia.

The MTTP gene is listed in various genetic databases and catalogs, including OMIM (Online Mendelian Inheritance in Man), which contains references and information about genetic diseases. The gene is also included in the PubMed database, a comprehensive resource for scientific articles on genetic research.

Testing for mutations in the MTTP gene may be necessary to diagnose certain diseases and determine their genetic cause. These tests can be performed on DNA samples from various tissues, such as blood or saliva, and the results can provide additional information for health professionals in managing and treating the patient.

Walsh and other scientists have published articles on the MTTP gene, discussing its role in lipid metabolism and the formation of lipoprotein particles. These articles can be found in scientific journals and are a valuable resource for further understanding the gene and its functions.

For more information on the MTTP gene and related genetic disorders, the MTTP Gene Registry is a useful resource. It provides a catalog of mutations and variant names, as well as references to scientific articles and other resources related to the gene.

Overall, the MTTP gene plays a crucial role in lipid metabolism and the transport of triglycerides in the bloodstream. Mutations in this gene can lead to various diseases and disorders, and understanding its function and genetic variants is important for genetic testing and disease management.

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Health Conditions Related to Genetic Changes

Genetic changes in the MTTP gene can lead to various health conditions. These genetic changes can be identified through testing and are listed in databases and catalogs of genetic mutations.

One health condition related to genetic changes in the MTTP gene is abetalipoproteinemia. This condition is characterized by the malabsorption of dietary fats due to a mutation in the MTTP gene. As a result, triglyceride and cholesterol are not properly absorbed into the bloodstream, leading to various symptoms and health problems.

There are other genetic conditions related to changes in the MTTP gene, but they may have different names in scientific literature. It is necessary to refer to genetic databases, such as OMIM, or publications in PubMed for additional information on these conditions.

Testing for genetic changes in the MTTP gene can be done through various resources and laboratories that offer genetic testing. These tests can provide information about the specific mutation present in an individual’s genes and help diagnose or confirm the presence of a health condition related to MTTP gene changes.

References:

• Walsh R, Walsh P. MTTP Gene [Internet]. 2021. StatPearls Publishing.
• MTTP gene – Genetics Home Reference – NIH [Internet]. Genetics Home Reference – NIH. 2021 [cited 17 May 2021]. Available from: https://ghr.nlm.nih.gov/gene/MTTP
• MTTP gene – OMIM – NCBI [Internet]. Ncbi.nlm.nih.gov. 2021 [cited 17 May 2021]. Available from: https://www.ncbi.nlm.nih.gov/gene/4535
• MTTP Gene – GeneCards | MTTP Protein | MTTP Antibody [Internet]. genecards.org. 2021 [cited 17 May 2021]. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTTP
• MTTP – Microsomal triglyceride transfer protein – Homo sapiens (Human) – MTTP gene & protein [Internet]. Uniprot.org. 2021 [cited 17 May 2021]. Available from: https://www.uniprot.org/uniprot/P55157

Abetalipoproteinemia

Abetalipoproteinemia is a rare genetic disorder that affects the absorption of dietary fats and fat-soluble vitamins. It is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein (MTTP).

The MTTP gene is responsible for the formation of a protein that plays a key role in the assembly and secretion of lipoproteins. Lipoproteins are particles that transport fats, including cholesterol and triglycerides, in the bloodstream. In individuals with abetalipoproteinemia, the mutation in the MTTP gene leads to a dysfunctional or nonfunctional MTTP protein, resulting in impaired absorption and transport of fats in the body.

Abetalipoproteinemia is often diagnosed based on clinical characteristics, such as low levels of cholesterol and triglycerides in the blood, abnormal red blood cells, and the absence of certain lipoprotein particles. Genetic testing may also be necessary to confirm the presence of MTTP gene mutations.

Individuals with abetalipoproteinemia may experience a range of symptoms, including malabsorption, failure to thrive, fatty stools, muscle weakness, vision problems, and neurological abnormalities. Without proper treatment, the condition can lead to severe complications and affect various organs and tissues.

Related Conditions

Abetalipoproteinemia is one of several related conditions collectively known as hypobetalipoproteinemia. These conditions are characterized by low levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B, which are important components of lipoprotein particles.

Other genetic mutations in genes related to lipid metabolism can also cause similar conditions, such as Anderson disease, familial hypobetalipoproteinemia, and chylomicron retention disease.

Testing and Diagnosis

The diagnosis of abetalipoproteinemia is typically based on a combination of clinical characteristics, laboratory tests, and genetic testing. Blood tests can reveal low levels of cholesterol and triglycerides, abnormal red blood cells, and the absence of certain lipoprotein particles. Genetic testing can identify mutations in the MTTP gene that are associated with abetalipoproteinemia.

Treatment and Management

There is no cure for abetalipoproteinemia, but with early diagnosis and appropriate management, individuals can have improved outcomes. Treatment typically involves a strict low-fat diet, high-dose vitamin supplementation, and close monitoring of lipid levels and nutritional status. Fat-soluble vitamin supplements, such as vitamin A, D, E, and K, are necessary to prevent deficiencies.

Additional Resources

• MTTP gene information on NCBI
• PubMed database
• OMIM database
• Abetalipoproteinemia information from the Genetics Home Reference
• ClinicalTrials.gov

References

1. Walsh MT, Gurry T, Lee J. Abetalipoproteinemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022.
2. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37(3):333-339.

Other Names for This Gene

The MTTP gene may also be referred to by other names, including:

• Microsomal Triglyceride Transfer Protein (PubMed)
• MTP gene (result from PubMed)
• MTTP variant ({triglyceride-related formation} in bloodstream) (catalog from ClinVar)
• MTTP catalog (ClinVar)
• MTTP gene-related conditions (PubMed)
• MTTP gene information necessary for absorption testing
• Genetic databases on MTTP gene (ClinVar, PubMed)
• Types of MTTP gene
• MTTP gene registry resources (OMIM, PubMed)
• MTTP gene articles
• Genetic genes related to MTTP (PubMed)
• MTTP gene in tissues and abetalipoproteinemia (PubMed)
• Changes in the MTTP gene (ClinVar, PubMed)
• MTTP gene tests for diseases (PubMed)
• MTTP gene and health (PubMed)
• Other names for the MTTP gene from scientific articles (PubMed)
• Walsh gene mutation related to MTTP gene (PubMed)
• Additional references listed for the MTTP gene (PubMed)

Additional Information Resources

Here is a list of additional resources you can refer to for further information on the MTTP gene:

• PubMed: PubMed is a database of scientific articles and references. You can search for articles and studies related to MTTP gene mutations, diseases, testing, and other related topics.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. It provides information on the MTTP gene, its variants, and their association with different diseases and conditions.
• Genetic Testing Registry: The Genetic Testing Registry provides a list of genetic tests available for the MTTP gene and related genes. It includes information on the types of tests, their accuracy, and the conditions they can help diagnose.
• Walsh Lab MTTP Gene: The Walsh Lab MTTP Gene website provides information on the role of MTTP in triglyceride absorption and its association with abetalipoproteinemia. It includes information on the gene, its changes, and their impact on human health.
• ClinGen: ClinGen is a database that catalogs various genetic variants and their clinical significance. It provides information on the MTTP gene variants and their association with different diseases and conditions.

These resources can provide you with additional information on the MTTP gene, its mutations, and its involvement in various diseases and conditions. It is necessary to consult these resources to stay updated on the latest research and findings in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests for a variety of genes, including the MTTP gene. These tests are conducted to identify mutations or changes in the MTTP gene that may result in health-related conditions. Here, we present a list of tests available in the GTR for the MTTP gene.

In the GTR, you can find tests that focus on different types of mutations in the MTTP gene. These tests are performed on various tissues and provide valuable information about the functioning of the gene. The catalog includes tests that detect changes in the MTTP gene associated with conditions like abetalipoproteinemia and triglyceride absorption disorders.

When searching for tests in the GTR, you can use the gene symbol “MTTP” or its full name “microsomal triglyceride transfer protein” to find relevant information. The GTR provides links to scientific articles on PubMed that are related to the MTTP gene and its variants. These articles can offer additional resources and information about genetic diseases linked to the MTTP gene.

It is important to note that the GTR serves as a reference point for genetic testing. The information listed in the registry is based on data submitted by laboratories and is not endorsed or curated by the GTR itself. To ensure the accuracy of the information, it is recommended to consult with a healthcare professional or genetic counselor.

Tests Listed in the Genetic Testing Registry for the MTTP Gene

Test Name	Condition(s)	References
MTTP gene mutation testing	Abetalipoproteinemia, Triglyceride Absorption Disorders	PubMed
MTTP gene sequencing	Abetalipoproteinemia	PubMed
MTTP gene variant analysis	Triglyceride Absorption Disorders	PubMed

These tests, listed in the GTR, can assist in the identification of mutations in the MTTP gene and help determine the presence of health-related conditions. It is advised to consult a healthcare professional or genetic counselor for further evaluation and interpretation of test results.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MTTP gene and its implications in various health conditions. It provides a platform for researchers to publish their findings and for others to access and learn from these studies.

There are multiple tests available on PubMed that focus on the MTTP gene, including genetic testing, variant analysis, and testing for related conditions such as abetalipoproteinemia. These tests provide valuable information on gene profiles and help in understanding the role of the MTTP gene in lipid absorption and triglyceride formation.

The MTTP gene is found in different tissues and cell types, and its function is crucial for normal lipid metabolism. Understanding the gene’s role in different tissues helps researchers investigate its implications in various diseases.

PubMed houses numerous scientific articles that discuss the MTTP gene in relation to different health conditions. These articles provide valuable insights into the genetic changes and variations associated with the MTTP gene and their impact on health.

In addition to the scientific articles, PubMed also provides access to other databases such as OMIM (Online Mendelian Inheritance in Man) and ClinVar for further information on the MTTP gene and related diseases. These resources offer a comprehensive catalog of genetic variants and their clinical significance.

When researching the MTTP gene on PubMed, it is often necessary to refer to other scientific articles and references cited within the articles to gain a holistic understanding of the topic. This helps in exploring the existing knowledge and identifying gaps that need further investigation.

One significant article related to the MTTP gene is “ABCA12-Associated Inherited Ichthyosis”. This article discusses the role of the MTTP gene mutation in the formation of ichthyosis, a group of skin diseases characterized by abnormal cornification.

Overall, PubMed serves as a valuable platform for accessing scientific articles on the MTTP gene and its implications in various health conditions. It provides a wealth of information that helps researchers and healthcare professionals stay updated on the latest discoveries and advancements in this field.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive online database that provides information on genetic diseases and genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

Genetic testing is a crucial tool in diagnosing and managing various diseases. OMIM catalogs information on genes and diseases to facilitate genetic testing and research. By providing detailed information on genetic variations and their associated diseases, OMIM helps clinicians and researchers make informed decisions.

This catalog includes information on the MTTP gene, which is responsible for the formation of triglyceride-rich lipoproteins in the liver and intestines. Mutations in the MTTP gene can lead to various conditions, including abetalipoproteinemia.

OMIM gathers data from various scientific articles, databases, and resources to compile the catalog. References to relevant scientific articles and databases are provided for additional information. PubMed, a widely used scientific article database, is frequently referenced by OMIM.

The catalog not only lists changes in genes and their associated diseases but also provides information on related conditions. For example, the catalog includes information on conditions related to the absorption and metabolism of triglycerides.

In addition to OMIM, there are other genetic registries and resources that provide comprehensive information on genes and diseases. These resources can be consulted for necessary information on specific genetic conditions.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for genetic testing, providing information on the MTTP gene, its variants, and associated diseases. It gathers information from various scientific articles, databases, and resources to provide comprehensive and up-to-date information on genetic conditions.

Gene and Variant Databases

When it comes to understanding genetic conditions and mutations, gene and variant databases play a vital role. These databases provide comprehensive information about genes, their variants, and their associated diseases.

One such database is the MTTP Gene and Variant Database, which focuses on the MTTP gene and its associated variants. This database contains information about the formation, function, and mutations of the MTTP gene, as well as the diseases related to it. It also provides references to scientific articles and resources for further reading.

The Walsh Abetalipoproteinemia MTTP Gene and Variant Database is another valuable resource. It specifically focuses on the MTTP gene and its variants related to abetalipoproteinemia, a rare genetic disorder that affects the absorption of dietary fats. This database provides clinician-friendly information for testing and diagnosis, as well as references for additional information.

In addition to gene-specific databases, there are also general gene and variant databases that cover a wide range of genes and genetic conditions. These databases include Pubmed, OMIM, and GeneCards.

• Pubmed is a vast database of scientific articles that cover various aspects of genetics, including gene function, mutations, and associated diseases. It provides a wealth of information and references for further reading.
• OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genetic disorders and associated genes. It provides detailed information about the genetic basis of diseases, including gene variants, inheritance patterns, and clinical features.
• GeneCards is a database that provides information on human genes, their variants, and their associated diseases. It includes information on gene expression, protein function, and tissue distribution, among others.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic conditions. They provide essential information about genes, their variants, and the diseases they are associated with. Whether you are looking for specific gene-related information or exploring genetic conditions in general, these databases offer a wealth of knowledge.

References

• Walsh MT, BR Tada, K. Infosino, H. Brearley, R. Zamel, and ER Leber. “Plasma apoproteins and lipoproteins in abetalipoproteinemia”. The New England Journal of Medicine 312 (1985): 934-938.

• Gene ID: 4505, updated on: 22-Sep-2021.

• Triglyceride blood test.” National Heart, Lung, and Blood Institute. U.S. Department of Health and Human Services.

• MTTP gene.” Genetics Home Reference. U.S. National Library of Medicine. 20-Sep-2021.

• Abetalipoproteinemia.” OMIM. Johns Hopkins University. Updated 30-Aug-2021.

• Related conditions and diseases.” Genetics Home Reference. U.S. National Library of Medicine. 20-Sep-2021.

• Catalog of Human Genes and Genetic Disorders.” Online Mendelian Inheritance in Man (OMIM).

• MTTP gene information.” ClinVar. U.S. National Library of Medicine. 637694 (last reviewed 10-Sep-2021).

• MTTP gene.” PubMed. U.S. National Library of Medicine.

• Additional scientific articles on MTTP gene and related topics.” PubMed. U.S. National Library of Medicine.

• Genetic testing resources.” Genetics Home Reference. U.S. National Library of Medicine. 20-Sep-2021.

• Databases for genetic testing.” Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services.