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TTPA Binds alpha-tocopherol and enhances its transfer between separate membranes. Defects in TTPA are the cause of ataxia with isolated vitamin E deficiency (AVED). AVED is an autosomal recessive disease characterized by spinocerebellar degeneration. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E. Note: This description may include information from UniProtKB.
Protein type: Lipid-binding
Chromosomal Location of Human Ortholog: 8q12.3
Cellular Component: cytosol; late endosome
Molecular Function: phosphatidylinositol-3,4-bisphosphate binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding; vitamin E binding
Biological Process: embryonic placenta development; intracellular pH reduction; lipid metabolic process; response to nutrient; response to pH; response to toxin; transport; vitamin E metabolic process; vitamin transport
Disease: Vitamin E, Familial Isolated Deficiency Of
Reference #:  P49638 (UniProtKB)
Alt. Names/Synonyms: Alpha-tocopherol transfer protein; Alpha-TTP; alphaTTP; ATTP; AVED; tocopherol (alpha) transfer protein; TPP1; TTP1; TTPA
Gene Symbols: TTPA
Molecular weight: 31,750 Da
Basal Isoelectric point: 7.17  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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