Figure 2.

Schematic of the patient mutations analyzed in this study by in vivo and in vitro activity assays. ZMPSTE24 is predicted to contain seven transmembrane spans, with three cytosolic loops and a C-terminal cytosolic tail containing a dilysine ER retrieval motif (green). The loops are drawn roughly to scale. Representative schematics show the approximate location of the molecular lesions in the ZMPSTE24 mutants examined in this study. The HEXXH catalytic motif (HELGH) in human ZMPSTE24 is at positions 335–339 (yellow). The correlation to the disease/patient case as shown in Figure 1 is noted in parentheses.