This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa.
alpha TTP; Alpha-tocopherol transfer protein; Alpha-TTP; tocopherol (alpha) transfer protein; tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency); Tocopherol transfer protein alpha
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