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- Title
Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene
- Authors
Lange, Peter; Gertsen, Elena; Monden, Ingrid; Klepper, Jörg; Keller, Konrad
- 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. Km and Vmax 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.
- Subjects
GENETIC mutation; GLUCOSE; AMINO acids; CYTOCHALASINS
- Publication
FEBS Letters, 2003, Vol 555, Issue 2, p274
- ISSN
0014-5793
- Publication type
Article
- DOI
10.1016/S0014-5793(03)01247-X