Fig. 4
From: MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders
adapted from Bornholdt et al., 2013. Green highlighted amino acids are the catalytic active motifs, HEIGH and LDG. Pathogenic variants with the substituted amino acids are indicated by arrows and colored circles. Red amino acids are substitutions that cause IFAP syndrome. Pink amino acids are substitutions that cause IFAP with BRESHECK. Orange amino acids are substitutions that cause KFSD. Yellow amino acids are substitutions that cause OS. Blue amino acids are substitutions that cause OI
Reported pathogenic MBTPS2 variants. MBTPS2 protein structure contains eight transmembrane domains (TM 1 to TM 8) spanning the Golgi membrane. The NH2-terminal, COOH-terminal and the loop linking TM 4 and 5 are cytoplasmic, whilst the four loops are luminal. The schematic diagram is