Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene |
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Authors: | Lange Peter Gertsen Elena Monden Ingrid Klepper Jörg Keller Konrad |
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Affiliation: | Institute of Pharmacology, Freie Universit?t Berlin, Thielallee 67-73, D-14195 Berlin, Germany. |
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Abstract: | The functional consequences of an in vivo heterozygous insertion mutation in the human facilitated glucose transporter isoform 1 (GLUT1) gene were investigated. The resulting frameshift in exon 10 changed the primary structure of the C-terminus from 42 in native GLUT1 to 61 amino acid residues in the mutant. Kinetic studies on a patient's erythrocytes were substantiated by expressing the mutant cDNA in Xenopus laevis oocytes. K(m) and V(max) values were clearly decreased explaining pathogenicity. Targeting to the plasma membrane was comparable between mutant and wild-type GLUT1. Transport inhibition by cytochalasin B was more effective in the mutant than in the wild-type transporter. The substrate specificity of GLUT1 remained unchanged. |
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Keywords: | Facilitated glucose transporter isoform 1 Facilitated glucose transporter isoform 1 deficiency syndrome Transport kinetics Xenopus oocyte |
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