Evaluation of γ-carboxylation of non-haemostatic VKD proteins
We have analysed the effect of 22 reported GGCX variants on γ-carboxylation of six non-haemostatic VKD proteins. Three proteins i.e. GRP, MGP, and BGLAP were included in our study known to function as calcification regulators. PRGP1 and TMG4 were included as representing transmembrane proteins with unknown function. GAS6 has function in cell signalling (Figure 1). In the following sections, markedly reduced levels of γ-carboxylated VKD proteins were correlated with the reported patient´s phenotypes including skin hyperlaxity, facial dysmorphologies and cardiac abnormalities.