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.