Alpha-tocopherol transfer protein explained

Alpha-tocopherol transfer protein (α-TTP) is a protein that in humans is encoded by the TTPA gene.^{[1] [2] [3]}

See also

• Familial isolated vitamin E deficiency

Further reading

• Gotoda T, Arita M, Arai H . Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. . N. Engl. J. Med. . 333 . 20 . 1313–8 . 1995 . 7566022 . 10.1056/NEJM199511163332003 . etal. free .
• Ben Hamida C, Doerflinger N, Belal S . Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. . Nat. Genet. . 5 . 2 . 195–200 . 1994 . 8252047 . 10.1038/ng1093-195 . 33125913 . etal.
• Hentati A, Deng HX, Hung WY . Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. . Ann. Neurol. . 39 . 3 . 295–300 . 1996 . 8602747 . 10.1002/ana.410390305 . 85193347 . etal.
• Cavalier L, Ouahchi K, Kayden HJ . Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. . Am. J. Hum. Genet. . 62 . 2 . 301–10 . 1998 . 9463307 . 10.1086/301699 . 1376876. etal.
• Schuelke M, Mayatepek E, Inter M . Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. . J. Pediatr. . 134 . 2 . 240–4 . 1999 . 9931538 . 10.1016/S0022-3476(99)70424-5 . etal.
• Cellini E, Piacentini S, Nacmias B . A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. . Arch. Neurol. . 59 . 12 . 1952–3 . 2003 . 12470185 . 10.1001/archneur.59.12.1952 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241. etal . 2002PNAS...9916899M. free .
• Meier R, Tomizaki T, Schulze-Briese C . The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. . J. Mol. Biol. . 331 . 3 . 725–34 . 2003 . 12899840 . 10.1016/S0022-2836(03)00724-1 . etal.
• Min KC, Kovall RA, Hendrickson WA . Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. . Proc. Natl. Acad. Sci. U.S.A. . 100 . 25 . 14713–8 . 2004 . 14657365 . 10.1073/pnas.2136684100 . 299775. free .
• Morley S, Panagabko C, Shineman D . Molecular determinants of heritable vitamin E deficiency. . Biochemistry . 43 . 14 . 4143–9 . 2004 . 15065857 . 10.1021/bi0363073 . etal.
• Müller-Schmehl K, Beninde J, Finckh B . Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. . Free Radic. Res. . 38 . 4 . 413–20 . 2004 . 15190938 . 10.1080/10715760310001659611 . 85982835 . etal.
• Mariotti C, Gellera C, Rimoldi M . Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. . Neurol. Sci. . 25 . 3 . 130–7 . 2004 . 15300460 . 10.1007/s10072-004-0246-z . 25567441 . etal.
• Wolf AT, Medcalf RL, Jern C . The t-PA -7351C>T enhancer polymorphism decreases Sp1 and Sp3 protein binding affinity and transcriptional responsiveness to retinoic acid. . Blood . 105 . 3 . 1060–7 . 2005 . 15466927 . 10.1182/blood-2003-12-4383 . free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928. etal.
• Klein RL, Semler AJ, Baynes JW . Glycation does not alter LDL-induced secretion of tissue plasminogen activator and plasminogen activator inhibitor-1 from human aortic endothelial cells. . Ann. N. Y. Acad. Sci. . 1043 . 379–89 . 2005 . 1 . 16037259 . 10.1196/annals.1333.044 . etal. 2005NYASA1043..379K . 21239765 .
• Qian J, Atkinson J, Manor D . Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. . Biochemistry . 45 . 27 . 8236–42 . 2006 . 16819822 . 10.1021/bi060522c .
• Attia J, Thakkinstian A, Wang Y . The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis. . Journal of Stroke and Cerebrovascular Diseases . 16 . 4 . 173–9 . 2007 . 17689414 . 10.1016/j.jstrokecerebrovasdis.2007.03.002 . etal.

External links

• GeneReviews/NCBI/NIH/UW entry on Ataxia with Vitamin E Deficiency
• OMIM entries on Ataxia with Vitamin E Deficiency

Notes and References

1. Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M . Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein . Nat Genet . 9 . 2 . 141–145 . 1995 . 7719340 . 10.1038/ng0295-141. 24917144 .
2. Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K . Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization . Biochem J . 306 . 2. 437–443 . 1995 . 7887897 . 1136538 . 10.1042/bj3060437.
3. Web site: Entrez Gene: TTPA tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency).