Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
- PMID: 11389907
- DOI: 10.1016/s0014-5793(01)02463-2
Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
Abstract
The first autosomal dominant missense mutation (G272A) reported within the human GLUT1 gene and shared by three affected family members was investigated in respect to functional consequences. Substitution of glycine-91 by site-directed mutagenesis with either aspartate or alanine resulted in a significant decrease in transport activity of GLUT1 expressed in Xenopus oocytes. Expression of mutant transporters was confirmed by immunoblot, 2-deoxy-glucose uptake and confocal laser microscopy. The data agree with 3-O-methyl-glucose uptake into patient erythrocytes and indicate that the loss of glycine rather than a hydrophilic side chain (Gly91Asp) defines the functional consequences of this mutation.
Similar articles
-
The large cytoplasmic loop of the glucose transporter GLUT1 is an essential structural element for function.Biol Chem. 2001 Nov;382(11):1551-8. doi: 10.1515/BC.2001.189. Biol Chem. 2001. PMID: 11767944
-
The predicted ATP-binding domains in the hexose transporter GLUT1 critically affect transporter activity.Biochemistry. 2001 Jul 3;40(26):7874-81. doi: 10.1021/bi002850x. Biochemistry. 2001. PMID: 11425315
-
Autosomal dominant transmission of GLUT1 deficiency.Hum Mol Genet. 2001 Jan 1;10(1):63-8. doi: 10.1093/hmg/10.1.63. Hum Mol Genet. 2001. PMID: 11136715
-
Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene.FEBS Lett. 2003 Dec 4;555(2):274-8. doi: 10.1016/s0014-5793(03)01247-x. FEBS Lett. 2003. PMID: 14644427
-
Functional consequences of proline mutations in the putative transmembrane segments 6 and 10 of the glucose transporter GLUT1.Eur J Biochem. 1995 Jan 15;227(1-2):454-8. doi: 10.1111/j.1432-1033.1995.tb20409.x. Eur J Biochem. 1995. PMID: 7851422
Cited by
-
Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules.Biophys J. 2004 Nov;87(5):2990-9. doi: 10.1529/biophysj.104.047886. Epub 2004 Aug 23. Biophys J. 2004. PMID: 15326030 Free PMC article.
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
-
Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1.PLoS One. 2015 Apr 28;10(4):e0125361. doi: 10.1371/journal.pone.0125361. eCollection 2015. PLoS One. 2015. PMID: 25919356 Free PMC article.
-
Inherited epithelial transporter disorders--an overview.J Inherit Metab Dis. 2008 Apr;31(2):178-87. doi: 10.1007/s10545-008-0861-6. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415698 Review.
-
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants.J Biol Chem. 2008 Jun 13;283(24):16732-42. doi: 10.1074/jbc.M801403200. Epub 2008 Apr 3. J Biol Chem. 2008. PMID: 18387950 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Miscellaneous