Alpha-tocopherol transfer protein
Alpha-tocopherol transfer protein (α-TTP) is a protein that in humans is encoded by the TTPA gene. This protein is primarily located in the liver and is key in the process of Vitamin E metabolism.
Function[edit | edit source]
The primary role of α-TTP is to bind to alpha-tocopherol, the most biologically active form of Vitamin E, and facilitate its transfer between lipid membranes and lipoproteins. This process is essential for the maintenance of normal levels of Vitamin E in the body.
Clinical significance[edit | edit source]
Mutations in the TTPA gene can lead to a rare, genetic disorder known as Ataxia with Vitamin E Deficiency (AVED). AVED is characterized by neurological complications due to a significant decrease in the levels of Vitamin E. Symptoms can include ataxia, neuropathy, retinitis pigmentosa, and skeletal myopathy.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
