Fig. 1
From: MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
Schematic illustration of S1P and S2P mediated RIP. Following stimulation, substrates are translocated from the ER to Golgi. At the Golgi, they are cleaved by S1P and then by S2P, liberating their N-terminal domains from the membrane to activate genes in the nucleus and thereby initiating signaling pathways involved in lipid metabolism, protein folding, osteogenesis, inflammatory signaling, osteoclastogenesis, chondrogenesis, and secretion of extracellular matrix proteins. Impairments of S2P lead to IFAP syndrome with or without BRESHECK, KFSD, OS and OI