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.
Other Names
alpha-tocopherol transfer protein; alphaTTP; ataxia (Friedreich-like) with vitamin E deficiency; ATTP; AVED; tocopherol (alpha) transfer protein; TTP1; TTPA_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 7274
- OMIM: 600415
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
