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

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

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

• Vitamin E
• Ataxia with Vitamin E Deficiency
• Tocopherol

References

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