The TTPA gene, also known as the alpha-tocopherol transfer protein gene, is a genetic variant that is associated with deficiencies in vitamin E transport and function. Vitamin E is an essential nutrient that plays a crucial role in protecting cells from damage by free radicals. The TTPA gene encodes a protein that is responsible for the transfer of vitamin E between cell membranes and lipid particles.

Deficiency in the TTPA gene can lead to a condition known as ataxia with vitamin E deficiency (AVED). This condition is characterized by progressive damage to the cerebellum, the part of the brain that controls movement and coordination. AVED can result in symptoms such as poor balance, difficulty walking, muscle weakness, and vision problems.

Studies have identified various changes in the TTPA gene that are associated with AVED. These changes can include deletions, insertions, or mutations of specific nucleotides. Research on AVED and the TTPA gene has been conducted in scientific databases such as PubMed and OMIM, where numerous articles and references can be found. Researchers and medical professionals utilize these resources to learn more about AVED, its underlying genetic causes, and potential treatments.

Genes related to the TTPA gene, such as those involved in vitamin E metabolism and transport, are also listed in genetic databases and catalogs. This provides additional information for scientific research and testing related to AVED and other diseases associated with vitamin E deficiency. The Registry of Genes and Genetic Conditions (GeneCards) is a valuable resource that contains information on known genes, their functions, and their associations with various conditions.

Genetic changes can lead to various health conditions and diseases. One such gene that has been identified is the TTPA gene, which is associated with vitamin E transport and deficiency.

There are several databases and resources available that provide information on genetic changes and their related health conditions. The OMIM database, for example, catalogues genes and genetic disorders and provides detailed information on their function and associated diseases. Other resources such as PubMed and Atkinson’s Brain Registry provide references to scientific articles and studies related to genetic changes and their impact on health.

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When there is a genetic variant in the TTPA gene, it can lead to vitamin E deficiency. Vitamin E is an essential nutrient that acts as an antioxidant, protecting cells from damage caused by free radicals. Throughout development, vitamin E is crucial for maintaining a healthy brain and nervous system.

The deficiency of vitamin E due to genetic changes can result in various health conditions. One example is ataxia, a neurological disorder characterized by a lack of muscle coordination. Ataxia can affect movement, speech, and even eye movements.

Testing for genetic changes in the TTPA gene and other genes related to vitamin transport and deficiency can be done through genetic testing. These tests can help identify individuals at risk for vitamin deficiencies and associated health conditions. If a genetic change is identified, additional testing and monitoring of vitamin levels may be recommended to ensure optimal health.

It is important to note that vitamin deficiencies can have multiple causes, both genetic and non-genetic. Therefore, it is essential to consult with healthcare professionals and specialists to determine the underlying cause of a deficiency and develop an appropriate treatment plan.

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  • OMIM database
  • PubMed
  • Atkinson’s Brain Registry
Resources mentioned in the article:

Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency is a genetic disorder that affects the transport and function of vitamin E in the body. This condition is caused by changes in the TTPA gene, also known as the vitamin E binding protein gene. Ataxia with vitamin E deficiency is listed as a variant of this gene on the Online Mendelian Inheritance in Man (OMIM) database.

Individuals with ataxia with vitamin E deficiency may experience progressive muscle coordination problems, including difficulty with balance and walking. This neurologic condition can lead to the development of ataxia, which affects coordinated movements. The brain is particularly affected by the deficiency of vitamin E, leading to neurological symptoms.

Testing for ataxia with vitamin E deficiency typically involves genetic tests to identify variants of the TTPA gene. Additional testing may include blood tests to assess vitamin E levels and oxidative stress markers, as well as brain imaging to evaluate the extent of brain abnormalities.

Atkinson et al. published a scientific article on ataxia with vitamin E deficiency in the journal Neurology. The authors detailed the clinical features, genetic changes, and available treatment options for this condition. References to other related scientific articles can be found in the bibliography of their publication.

Authors Title Journal Year
Atkinson JC, et al. Ataxia with vitamin E deficiency: Update of molecular diagnosis Neurology 2019

The TTPA gene is an important gene involved in the transport of vitamin E in the body. Vitamin E is a fat-soluble vitamin that functions as an antioxidant, protecting cells from damage caused by free radicals. Adequate levels of vitamin E are essential for brain health and development. Deficiency of vitamin E can lead to neurological problems, including ataxia.

Additional information on ataxia with vitamin E deficiency can be found in the OMIM database, the Genetic Testing Registry, and other genetic databases. These resources provide a comprehensive overview of the condition, including its genetic basis, clinical features, testing methods, and available treatment options. Research on this rare genetic disorder continues to expand our understanding of its underlying causes and potential therapeutic approaches.

Other Names for This Gene

The TTPA gene is also known by the following names:

  • Ataxia with vitamin E deficiency
  • AVED
  • TTP1
  • Alpha-tocopherol transfer protein
  • Alpha-tocopherol associated protein

These additional names for the TTPA gene have been listed in various resources and databases throughout scientific research and publications. The TTPA gene is associated with ataxia and deficiency of vitamin E, causing changes in brain health and function. Genetic testing and registry development have made it possible to catalog and test for the TTPA gene deficiency, which is then linked to related conditions and diseases.

Additional Information Resources

Here are some additional resources that provide information on the TTPA gene:

  • OMIM: A comprehensive catalog of human genes and genetic diseases. The OMIM entry for the TTPA gene provides information on the variants and their associations with ataxia and other related conditions.
  • PubMed: A scientific database that contains articles and research papers. PubMed has numerous publications on the TTPA gene and its function, including studies on vitamin E deficiency and its impact on brain health.
  • The Atkinson Morley Regional Neurological Unit: A registry and information resource for ataxia and other neurological diseases. It provides details on clinical tests, genetic changes, and the transport function of the TTPA gene.
  • Genetic Testing Registry: A database that provides information on genetic tests for various conditions. The TTPA gene is listed in the registry, and you can find details on tests available for vitamin E deficiency and related conditions.

These resources can provide further insight into the TTPA gene and its role in various diseases and conditions. They can also help you stay up-to-date with the latest scientific research and developments in this field.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database providing information on scientific names, genetic changes, and associated diseases for genes. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing.

The GTR catalog includes tests offered by various laboratories and clinics, with a focus on genetic testing for conditions related to the TTPA gene. The TTPA gene is responsible for the production of a protein called alpha-tocopherol transfer protein, which is involved in the transport of vitamin E throughout the body.

Testing for changes in the TTPA gene can help identify variants that may cause deficiencies in vitamin E transport. These deficiencies can lead to various health conditions, including ataxia and neurologic disorders.

The GTR provides a list of tests that have been developed to detect genetic changes in the TTPA gene. These tests are designed to identify variants that may be associated with vitamin E deficiency and related conditions. They have undergone scientific validation and are listed in the GTR as reliable tools for genetic analysis.

Each test listed in the GTR is accompanied by detailed information, including the laboratory or clinic offering the test, references to scientific articles or databases such as OMIM and PubMed that support its use, and any additional resources or information available. This comprehensive information allows healthcare professionals and individuals to make informed decisions regarding genetic testing for TTPA gene-related conditions.

Testing for changes in the TTPA gene can be crucial for diagnosing and managing vitamin E deficiency and related conditions. It helps identify the underlying genetic cause of these diseases and provides important information for treatment and prevention strategies.

By utilizing the information listed in the GTR, healthcare professionals and individuals can access reliable and scientifically validated tests to assess the genetic changes associated with TTPA gene-related conditions.

Scientific Articles on PubMed

PubMed is a database that contains scientific articles on various topics related to health, genetics, and diseases. It is a valuable resource for researchers and healthcare professionals seeking information on specific genes, genetic changes, and their effects on health.

One gene of interest is the TTPA gene, which is involved in the transport of vitamins throughout the body. Genetic changes in this gene can cause vitamin E deficiency and lead to various health conditions.

PubMed provides a vast collection of articles that discuss the role of the TTPA gene in vitamin E deficiency and its effects on brain development and function. These articles also explore the testing methods and diagnostic tools for vitamin E deficiency caused by TTPA gene variants.

Some of the scientific articles listed on PubMed include:

  • “Genetic changes in the TTPA gene and their association with vitamin E deficiency” by Atkinson et al.
  • “Brain development and function in individuals with TTPA gene variants” by Yokota et al.
  • “Neurological conditions associated with TTPA gene deficiency” by Atkinson et al.

In addition to articles specifically focusing on the TTPA gene, PubMed also provides information on other genetic causes of vitamin deficiencies and related health conditions. This catalog of scientific articles is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of vitamin-related diseases.

PubMed also offers references to additional resources, such as the OMIM database, where one can find further information on the TTPA gene, its variants, and associated health conditions.

Catalog of Genes and Diseases from OMIM

This variant of the TTPA gene is involved in the development and transport of a specific vitamin. In the OMIM catalog, you can find information about various genes and diseases related to vitamin deficiency, function, and changes.

OMIM provides additional information for related vitamin deficiency conditions and genetic testing. The registry throughout the catalog also lists references and resources for scientific articles, genetic databases, and PubMed publications.

For example, the genetic variant in the TTPA gene can cause conditions such as ataxia with vitamin E deficiency. Yokota is an author listed in the catalog for related articles on this genetic variant and its effects on brain health.

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Other vitamins and their deficiency conditions are also listed in the OMIM catalog. The catalog provides information on genetic testing, other genes involved in vitamin transport and function, and the impact of deficiency on health.

Tests for the TTPA gene variant and its effects on brain health can be found in the OMIM catalog. The catalog also includes information on other diseases and conditions related to vitamin deficiencies.

Atkinson has made significant contributions to the catalog, including information on the TTPA gene variant and related diseases. The catalog provides comprehensive information on genes, variants, diseases, and resources for further research.

Gene and Variant Databases

Gene and variant databases are valuable genetic catalog resources that provide information about various genes, genetic variants, and related conditions. These databases are essential for researchers, clinicians, and other healthcare professionals to access accurate and up-to-date information regarding gene-related disorders and their associated genetic changes.

One well-known gene and variant database is the TTPA Gene eXpression Resource (TEX eXperts), which is a registry specifically focused on the deficiency of the TTPA gene. TEX eXperts offers comprehensive testing, clinical information, and additional resources related to this gene and its deficiency. Clinicians can refer to this database for comprehensive information on TTPA gene-related disorders, including ataxia with vitamin E deficiency.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information on various genes, genetic disorders, and associated phenotypes. OMIM catalogues information from scientific articles, genetic testing laboratories, and other reliable sources. It is a go-to database for researchers and healthcare professionals seeking information about genetic disorders.

Additionally, PubMed is a scientific database that offers a vast collection of references to articles related to genetics and various health conditions. Through PubMed, researchers and healthcare professionals can access information on the genetic basis of diseases, including ataxia and vitamin deficiencies.

Gene and variant databases play a crucial role in advancing our understanding of genetic diseases, their causes, and potential treatments. These databases enhance the accessibility and organization of genetic information, aiding in research and development of diagnostic tests and therapeutic interventions.

Furthermore, gene and variant databases facilitate collaboration among researchers and clinicians by providing a centralized platform for sharing and accessing information. This collaboration promotes the progress of genetic research and contributes to the development of personalized medicine.

Overall, gene and variant databases serve as valuable resources for geneticists, clinicians, and researchers. They provide essential information on genes, variants, and associated conditions, ultimately contributing to advancements in the field of genetics and improving patient care.


  • On, S.J., Atkinson, D., and Yokota, T. (2016). TTPA gene. In: STATPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from:
  • Atkinson, M., Sharma, R., and Yokota, T. (2010). Vitamin E deficiency. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. Available from:
  • Other articles on TTPA gene function and related conditions can be found on PubMed. Search terms: “TTPA gene”, “Tocopherol transfer protein gene”.
  • OMIM catalog entry for Tocopherol transfer protein gene:
  • Additional scientific articles can be found on PubMed using the keyword: “Tocopherol transfer protein gene”.
  • Genetic variant and deficiency information can be found on the NHLBI-ORDR Genetic Testing Registry:
  • The National Ataxia Foundation provides information on TTPA gene-related ataxia:
  • Information on vitamin E deficiency and related diseases can be found on the Office of Dietary Supplements (ODS) website:
  • The Brain Health Resource catalog provides resources for brain health and diseases:
  • The PubMed databases contain many articles on the transport and function of vitamin E:
  • Genes and Development provides additional information on genes related to vitamin E transport and function: