Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

alpha-Tocopherol transfer protein (alpha TTP), which specifically binds this vitamin and enhances its transfer between separate membranes, was previously isolated from rat liver cytosol. In the current study we demonstrated the presence of alpha TTP in human liver by isolating its cDNA from a human liver cDNA library. The cDNA for human alpha TTP predicts 278 amino acids with a calculated molecular mass of 31,749, and the sequence exhibits 94% similarity with rat alpha TTP at the amino acid level. The recombinant human alpha TTP expressed in Escherichia coli exhibits both alpha-tocopherol transfer activity in an in vitro assay and cross-reactivity to the anti-(rat alpha TTP) monoclonal antibody. Northern blot analysis revealed that human alpha TTP is expressed in the liver like rat alpha TTP. The human and rat alpha TTPs show structural similarity with other apparently unrelated lipid-binding/transfer proteins, i.e. retinaldehyde-binding protein present in retina, and yeast SEC14 protein, which possesses phosphatidylinositol/phosphatidylcholine transfer activity. Both Southern-blot hybridization of human-hamster somatic cell hybrid lines and fluorescence in situ hybridization revealed a single alpha TTP gene corresponding to the 8q13.1-13.3 region of chromosome 8, which is identical to the locus of a recently described clinical disorder, ataxia with selective vitamin E deficiency (AVED). The relationship between alpha TTP and AVED will be discussed.
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PMID:Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. 788 97

A protein has been isolated from rat liver cytosol that specifically binds alpha-tocopherol. It does not occur in other tissues. Its amino acid sequence has been determined and it was found to have great homology with 11-cis-retinaldehyde-binding protein of the retina. This tocopherol-binding protein may be defective in a certain type of familial vitamin E deficiency syndrome.
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PMID:Structure and possible function of an alpha-tocopherol-binding protein. 801 53