1r5l

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[[Image:1r5l.png|left|200px]]
 
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{{STRUCTURE_1r5l| PDB=1r5l | SCENE= }}
{{STRUCTURE_1r5l| PDB=1r5l | SCENE= }}
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===Crystal Structure of Human Alpha-Tocopherol Transfer Protein Bound to its Ligand===
===Crystal Structure of Human Alpha-Tocopherol Transfer Protein Bound to its Ligand===
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{{ABSTRACT_PUBMED_14657365}}
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{{ABSTRACT_PUBMED_14657365}}
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==Disease==
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[[http://www.uniprot.org/uniprot/TTPA_HUMAN TTPA_HUMAN]] Defects in TTPA are the cause of ataxia with isolated vitamin E deficiency (AVED) [MIM:[http://omim.org/entry/277460 277460]]. 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.<ref>PMID:8602747</ref><ref>PMID:9463307</ref><ref>PMID:7719340</ref><ref>PMID:7566022</ref><ref>PMID:15065857</ref><ref>PMID:15300460</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/TTPA_HUMAN TTPA_HUMAN]] Binds alpha-tocopherol and enhances its transfer between separate membranes.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:014657365</ref><references group="xtra"/>
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<ref group="xtra">PMID:014657365</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hendrickson, W A.]]
[[Category: Hendrickson, W A.]]

Revision as of 02:44, 25 March 2013

Template:STRUCTURE 1r5l

Contents

Crystal Structure of Human Alpha-Tocopherol Transfer Protein Bound to its Ligand

Template:ABSTRACT PUBMED 14657365

Disease

[TTPA_HUMAN] Defects in TTPA are the cause of ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]. 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.[1][2][3][4][5][6]

Function

[TTPA_HUMAN] Binds alpha-tocopherol and enhances its transfer between separate membranes.

About this Structure

1r5l is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • 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. 2003 Dec 9;100(25):14713-8. Epub 2003 Dec 1. PMID:14657365 doi:10.1073/pnas.2136684100
  1. ↑ Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T, Ahmed. Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Ann Neurol. 1996 Mar;39(3):295-300. PMID:8602747 doi:http://dx.doi.org/10.1002/ana.410390305
  2. ↑ Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. PMID:9463307 doi:S0002-9297(07)63495-8
  3. ↑ 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. 1995 Feb;9(2):141-5. PMID:7719340 doi:http://dx.doi.org/10.1038/ng0295-141
  4. ↑ Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995 Nov 16;333(20):1313-8. PMID:7566022
  5. ↑ Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D. Molecular determinants of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. PMID:15065857 doi:10.1021/bi0363073
  6. ↑ 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. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004 Jul;25(3):130-7. PMID:15300460 doi:10.1007/s10072-004-0246-z

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