Figure 2.

Classes of molecules perturbed in skin diseases, illustrated at the subcellular level. Two epidermal keratinocytes are connected by the desmosome (desmoglein, desmocollin, plakoglobin, plakophilin, desmoplakin), which is connected to the keratin intermediate filament network. Other molecules, such as lipid and ion transporters (i.e., ATP2C1, ATP2A2, ABCC6, AAGAB, ABCA12), as well as enzymes in biosynthetic pathways (i.e., STS, TG1, FALDH) are depicted as residents of their respective organelles (i.e., endoplasmic reticulum, Golgi apparatus). All proteins are color coded to match the corresponding monogenic skin diseases they are associated with.