Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J (original) (raw)
Figure 9
Location of the _FIG4_-I41T mutation and effect on protein interaction.
A) Predicted structure for FIG4 phosphatase based on protein coordinates of yeast Sac1 phosphatase(18). The isoleucine residue mutated in CMT4J (red) is located near the surface of the N-terminal domain (blue) that is predicted to function in protein-protein interaction [18]. The catalytic domain (yellow) contains the active site (green). Image courtesy of Yuxin Mao. B) Predicted orientation of the FIG4 protein in the PI(3,5)P2 biosynthetic complex [3]. As shown in this paper, the I41T mutation of FIG4 (red) reduces interaction with both FAB1 and VAC14.