Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1
Hongliu Chen
 + 429 word(s) 429 2020-12-15 08:13:33

Video Upload Options

Do you have a full video?
Send video materials Upload full video

Confirm

Are you sure to Delete?
Yes No
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Chen, H. TTPA Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4018 (accessed on 20 April 2024).
Chen H. TTPA Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4018. Accessed April 20, 2024.
Chen, Hongliu. "TTPA Gene" Encyclopedia, https://encyclopedia.pub/entry/4018 (accessed April 20, 2024).
Chen, H. (2020, December 23). TTPA Gene. In Encyclopedia. https://encyclopedia.pub/entry/4018
Chen, Hongliu. "TTPA Gene." Encyclopedia. Web. 23 December, 2020.
TTPA Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/ttpa

Alpha tocopherol transfer protein.

genes

1. Normal Function

The TTPA gene provides instructions for making the α-tocopherol transfer protein (αTTP), which is found in the liver and brain. This protein controls the distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals. Normally, vitamin E derived from food is absorbed in the intestine and then transported into the liver on molecules called chylomicrons. After a meal, chylomicrons are formed to transport fat-soluble vitamins (such as vitamin E), dietary fats, and cholesterol from the intestine to the liver. Once in the liver, αTTP transfers vitamin E from chylomicrons to very low-density lipoproteins (VLDLs), which carry fat, fat-soluble vitamins, and cholesterol from the liver to other tissues throughout the body. The VLDLs are then released into the bloodstream so the accompanying vitamin E can be used in the body. The αTTP protein is also thought to transport vitamin E to nerve cells (neurons) in the brain.

2. Health Conditions Related to Genetic Changes

2.1. Ataxia with Vitamin E Deficiency

More than 20 mutations in the TTPA gene have been found to cause ataxia with vitamin E deficiency. This condition is characterized by the development of neurological problems including difficulty coordinating movements (ataxia) due to a buildup of harmful molecules called free radicals. Some of these mutations cause no functional protein to be made, while others change a single protein building block (amino acid) in the αTTP protein, reducing its function. As a result, the body cannot retain or use dietary vitamin E, which leads to reduced levels of this vitamin in the blood and the accumulation of free radicals. One TTPA gene mutation that is found in the Japanese population changes the amino acid histidine to the amino acid glutamine at position 101 in the αTTP protein (written as His101Glu or H101Q). This mutation is associated with the development of an eye disorder called retinitis pigmentosa that causes vision loss in people with ataxia with vitamin E deficiency.

Mutations in the TTPA gene that cause no functional αTTP protein to be made are associated with a severe form of ataxia that begins at a young age. Mutations that reduce but do not eliminate the protein's function are associated with milder ataxia that occurs at a later age and progresses more slowly.

3. Other Names for This Gene

  • alpha-tocopherol transfer protein

  • alphaTTP

  • ataxia (Friedreich-like) with vitamin E deficiency

  • ATTP

  • AVED

  • tocopherol (alpha) transfer protein

  • TTP1

  • TTPA_HUMAN

References

  1. Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D,Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinicalfollow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004 Jul;25(3):130-7.
  2. Meier R, Tomizaki T, Schulze-Briese C, Baumann U, Stocker A. The molecularbasis of vitamin E retention: structure of human alpha-tocopherol transferprotein. J Mol Biol. 2003 Aug 15;331(3):725-34.
  3. Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D.Molecular determinants of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9.
  4. Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation ofthe alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001Nov-Dec;45(6):672-6.
  5. Qian J, Atkinson J, Manor D. Biochemical consequences of heritable mutationsin the alpha-tocopherol transfer protein. Biochemistry. 2006 Jul11;45(27):8236-42.
  6. Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T, Kanda T, Suzuki J,Imai T, Matsumoto H, Harino S, Kiyosawa M, Mizusawa H, Inoue K. Friedreich-likeataxia with retinitis pigmentosa caused by the His101Gln mutation of thealpha-tocopherol transfer protein gene. Ann Neurol. 1997 Jun;41(6):826-32.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Hongliu Chen
View Times: 388
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    1000/1000
    Hot Most Recent
    Feedback