TTPA
Function
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).
Involvement in disease
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.
Cellular localization
- Cytoplasm
Alternative names
TPP1, TTPA, Alpha-tocopherol transfer protein, Alpha-TTP