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    Biochem J. 1993 Jul 15;293 ( Pt 2):317-20.

    Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868-->Leu in the membrane domain of band 3.

    Bruce LJ, Kay MM, Lawrence C, Tanner MJ.

    Department of Biochemistry, School of Medical Sciences, University of Bristol, U.K.

    1. We have studied band 3 HT, a human red-cell band 3 variant with increased M(r), which is associated with abnormal red-cell shape (acanthocytosis) and increased anion-transport activity. 2. We have shown that the increased M(r) does not result from the presence of the band 3 Memphis mutation, and that the variant band 3 is covalently labelled by 4,4'-di-isothiocyanato-1,2-diphenylethane-2,2'-disulphonic acid (H2DIDS) less readily than normal. 3. cDNA cloning studies show that band 3 HT results from the mutation Pro-868-->Leu, and the possible significance of the mutation in the altered anion-transport activity and cytoskeleton binding properties of band 3 HT is discussed.

    PMID: 8343110 [PubMed - indexed for MEDLINE]

    PMCID: 1134360

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