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      The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21

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      Genomics
      Elsevier BV

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          Abstract

          A human Na+/myo-inositol cotransporter (SLC5A3) gene was cloned; sequencing revealed a single intron-free open reading frame of 2157 nucleotides. Containing 718 amino acid residues, the predicted protein is highly homologous to the product of the canine osmoregulatory SLC5A3 gene. The SLC5A3 protein is number 3 of the solute carrier family 5 and was previously designated SMIT. Using fluorescence in situ hybridization, the human SLC5A3 gene was localized to band q22 on chromosome 21. Many tissues including brain demonstrate gene expression. The inability of a trisomic 21 cell to downregulate expression of three copies of this osmoregulatory gene could result in increased flux of both myo-inositol and Na+ across the plasma membrane. The potential consequences include perturbations in the cell membrane potential and tissue osmolyte levels. The SLC5A3 gene may play a role in the pathogenesis of Down syndrome.

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          Author and article information

          Journal
          Genomics
          Genomics
          Elsevier BV
          08887543
          January 1995
          January 1995
          : 25
          : 2
          : 507-513
          Article
          10.1016/0888-7543(95)80052-N
          7789985
          ff6b7bb1-6a96-44e3-b3d3-a674c5983b33
          © 1995

          https://www.elsevier.com/tdm/userlicense/1.0/

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