Niemann-Pick disease type C
Feb. 17, 2024
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GLUT1 protein structure schematic diagram
Schematic diagram of the GLUT1 protein structure, showing locations of specific mutations with corresponding phenotypes. The GLUT1 protein structure consists of 12 transmembrane domains and intracellular amino- and carboxy-termini (Mueckler et al 1985). Known GLUT1 deficiency syndrome (Klepper and Leiendecker 2007) and paroxysmal exercise-induced dyskinesia/epilepsy mutations are marked on this figure (yellow colored circles). The PED/epilepsy mutations from the pedigrees in Figure 2 are boxed. The solid bars indicate the locations of the intron-exon boundaries in the GLUT1 gene. Splice-site mutations are indicated at these solid bars with an asterisk. (Source: Suls et al 2008. Courtesy of Dr. Wim Van Paesschen, Department of Neurology, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. Used with permission.)