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.
