TTPA/TPP1

Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells (PubMed:7887897). Binds both phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).

Ataxia with vitamin E deficiency

AVED

An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss.

None

The disease is caused by variants affecting the gene represented in this entry.

• Cytoplasm

TPP1, TTPA, Alpha-tocopherol transfer protein, Alpha-TTP

• entrezGene:7274
• omim:600415
• swissprot:P49638

Proteins

31750Da