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Gene Review

TTPA  -  tocopherol (alpha) transfer protein

Homo sapiens

Synonyms: ATTP, AVED, Alpha-TTP, Alpha-tocopherol transfer protein, TPP1, ...
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Disease relevance of TTPA


High impact information on TTPA


Chemical compound and disease context of TTPA


Biological context of TTPA


Anatomical context of TTPA


Associations of TTPA with chemical compounds

  • OBJECTIVES: To perform a screening of the TTPA gene in the patient and to evaluate the effects of treatment with vitamin E on the patient's neurologic disturbances [9].
  • This is a neurodegenerative condition that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA) [13].
  • It is now possible to follow AO-alpha-tocopherol transfer from donor lipid vesicles composed of predominantly phosphatidylcholine (PC) to acceptor lipid vesicles containing PC and a quenching lipid NBD-PE (2-dipalmitoyl-sn-glycero-3-phosphoethanolamine-N-[7-nitro-2-1,3-benzoxadiazol-4-yl]) [14].
  • The best recovery of refolded recombinant alpha-TTP fusion capable of binding alpha-tocopherol was provided by matrix-assisted refolding in the presence of 0.5 M arginine [15].
  • In contrast to beta-, gamma- and delta-tocopherol, alpha-tocopherol is preferentially conserved by the discriminating action of the liver alpha-tocopherol transfer protein, which also maintains plasma alpha-tocopherol concentration within a range of 20 to 40 muM [16].

Physical interactions of TTPA


Other interactions of TTPA


Analytical, diagnostic and therapeutic context of TTPA


  1. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Mariotti, C., Gellera, C., Rimoldi, M., Mineri, R., Uziel, G., Zorzi, G., Pareyson, D., Piccolo, G., Gambi, D., Piacentini, S., Squitieri, F., Capra, R., Castellotti, B., Di Donato, S. Neurol. Sci. (2004) [Pubmed]
  2. Intravesical therapy comparing BCG, adriamycin, and thiotepa in 200 patients with superficial bladder cancer: a randomized prospective study. Martinez-Pineiro, J.A., Jimenez León, J., Martinez-Pineiro, L., Fiter, L., Mosteiro, J.A., Navarro, J., García Matres, M.J., Cárcamo, P. Prog. Clin. Biol. Res. (1989) [Pubmed]
  3. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Hentati, A., Deng, H.X., Hung, W.Y., Nayer, M., Ahmed, M.S., He, X., Tim, R., Stumpf, D.A., Siddique, T., Ahmed, n.u.l.l. Ann. Neurol. (1996) [Pubmed]
  4. Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein. Yokota, T., Shiojiri, T., Gotoda, T., Arai, H. N. Engl. J. Med. (1996) [Pubmed]
  5. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. Gotoda, T., Arita, M., Arai, H., Inoue, K., Yokota, T., Fukuo, Y., Yazaki, Y., Yamada, N. N. Engl. J. Med. (1995) [Pubmed]
  6. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Arai, H., Inoue, K., Mandel, J.L., Koenig, M. Nat. Genet. (1995) [Pubmed]
  7. The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. Meier, R., Tomizaki, T., Schulze-Briese, C., Baumann, U., Stocker, A. J. Mol. Biol. (2003) [Pubmed]
  8. Vitamins C and E in adolescents and young adults with HIV infection. Stephensen, C.B., Marquis, G.S., Jacob, R.A., Kruzich, L.A., Douglas, S.D., Wilson, C.M. Am. J. Clin. Nutr. (2006) [Pubmed]
  9. A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Cellini, E., Piacentini, S., Nacmias, B., Forleo, P., Tedde, A., Bagnoli, S., Ciantelli, M., Sorbi, S. Arch. Neurol. (2002) [Pubmed]
  10. In silico search for single nucleotide polymorphisms in genes important in vitamin E homeostasis. Döring, F., Rimbach, G., Lodge, J.K. IUBMB Life (2004) [Pubmed]
  11. Acute renal failure provoked by toxin from caterpillars of the species Lonomia obliqua. Gamborgi, G.P., Metcalf, E.B., Barros, E.J. Toxicon (2006) [Pubmed]
  12. Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. Müller-Schmehl, K., Beninde, J., Finckh, B., Florian, S., Dudenhausen, J.W., Brigelius-Flohé, R., Schuelke, M. Free Radic. Res. (2004) [Pubmed]
  13. Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis. Alex, G., Oliver, M.R., Collins, K.J. Journal of paediatrics and child health. (2000) [Pubmed]
  14. Fluorescent tocopherols as probes of inter-vesicular transfer catalyzed by the alpha-tocopherol transfer protein. Atkinson, J.K., Nava, P., Frahm, G., Curtis, V., Manor, D. Ann. N. Y. Acad. Sci. (2004) [Pubmed]
  15. Expression and refolding of recombinant human alpha-tocopherol transfer protein capable of specific alpha-tocopherol binding. Panagabko, C., Morley, S., Neely, S., Lei, H., Manor, D., Atkinson, J. Protein Expr. Purif. (2002) [Pubmed]
  16. Recent advances in vitamin E metabolism and deficiency. Eggermont, E. Eur. J. Pediatr. (2006) [Pubmed]
  17. Phosphorylation of supernatant protein factor enhances its ability to stimulate microsomal squalene monooxygenase. Singh, D.K., Mokashi, V., Elmore, C.L., Porter, T.D. J. Biol. Chem. (2003) [Pubmed]
  18. Tocopherol-associated protein is a ligand-dependent transcriptional activator. Yamauchi, J., Iwamoto, T., Kida, S., Masushige, S., Yamada, K., Esashi, T. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  19. Vitamin E 80th anniversary: a double life, not only fighting radicals. Ricciarelli, R., Zingg, J.M., Azzi, A. IUBMB Life (2001) [Pubmed]
  20. Kinetics of transfer of alpha-tocopherol between model and native plasma lipoproteins. Massey, J.B. Biochim. Biophys. Acta (1984) [Pubmed]
  21. Non-antioxidant activities of vitamin E. Zingg, J.M., Azzi, A. Current medicinal chemistry. (2004) [Pubmed]
  22. Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Arita, M., Sato, Y., Miyata, A., Tanabe, T., Takahashi, E., Kayden, H.J., Arai, H., Inoue, K. Biochem. J. (1995) [Pubmed]
  23. alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. Tamaru, Y., Hirano, M., Kusaka, H., Ito, H., Imai, T., Ueno, S. Neurology (1997) [Pubmed]
  24. Ligand specificity in the CRAL-TRIO protein family. Panagabko, C., Morley, S., Hernandez, M., Cassolato, P., Gordon, H., Parsons, R., Manor, D., Atkinson, J. Biochemistry (2003) [Pubmed]
  25. Human placental trophoblast cells express alpha-tocopherol transfer protein. Kaempf-Rotzoll, D.E., Horiguchi, M., Hashiguchi, K., Aoki, J., Tamai, H., Linderkamp, O., Arai, H. Placenta (2003) [Pubmed]
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