TTPA

Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
File:PBB Protein TTPA image.jpg PDB rendering based on 1oip.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1oip​, 1oiz​, 1r5l​
Identifiers
Symbols	TTPA ; AVED; TTP1; alphaTTP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37295
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TTPA 210614 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency), also known as TTPA, is a human gene.

Further reading

• Gotoda T, Arita M, Arai H; et al. (1995). "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. PMID 7566022.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ouahchi K, Arita M, Kayden H; et al. (1995). "Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein". Nat. Genet. 9 (2): 141–5. doi:10.1038/ng0295-141. PMID 7719340.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Arita M, Sato Y, Miyata A; et al. (1995). "Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization". Biochem. J. 306 ( Pt 2): 437–43. PMID 7887897.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ben Hamida C, Doerflinger N, Belal S; et al. (1994). "Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping". Nat. Genet. 5 (2): 195–200. doi:10.1038/ng1093-195. PMID 8252047.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hentati A, Deng HX, Hung WY; et al. (1996). "Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency". Ann. Neurol. 39 (3): 295–300. doi:10.1002/ana.410390305. PMID 8602747.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cavalier L, Ouahchi K, Kayden HJ; et al. (1998). "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. PMID 9463307.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schuelke M, Mayatepek E, Inter M; et al. (1999). "Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency". J. Pediatr. 134 (2): 240–4. PMID 9931538.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cellini E, Piacentini S, Nacmias B; et al. (2003). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Arch. Neurol. 59 (12): 1952–3. PMID 12470185.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meier R, Tomizaki T, Schulze-Briese C; et al. (2003). "The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein". J. Mol. Biol. 331 (3): 725–34. PMID 12899840.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Min KC, Kovall RA, Hendrickson WA (2004). "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. doi:10.1073/pnas.2136684100. PMID 14657365.CS1 maint: Multiple names: authors list (link)
• Morley S, Panagabko C, Shineman D; et al. (2004). "Molecular determinants of heritable vitamin E deficiency". Biochemistry. 43 (14): 4143–9. doi:10.1021/bi0363073. PMID 15065857.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Müller-Schmehl K, Beninde J, Finckh B; et al. (2004). "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. PMID 15190938.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mariotti C, Gellera C, Rimoldi M; et al. (2004). "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. doi:10.1007/s10072-004-0246-z. PMID 15300460.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wolf AT, Medcalf RL, Jern C (2005). "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. doi:10.1182/blood-2003-12-4383. PMID 15466927.CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Klein RL, Semler AJ, Baynes JW; et al. (2005). "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. doi:10.1196/annals.1333.044. PMID 16037259.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Qian J, Atkinson J, Manor D (2006). "Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein". Biochemistry. 45 (27): 8236–42. doi:10.1021/bi060522c. PMID 16819822.CS1 maint: Multiple names: authors list (link)
• Attia J, Thakkinstian A, Wang Y; et al. (2007). "The PAI-1 4G/5G gene polymorphism and ischemic stroke: an association study and meta-analysis". Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 16 (4): 173–9. doi:10.1016/j.jstrokecerebrovasdis.2007.03.002. PMID 17689414.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)