Functional characterization of non-synonymous variants in PC1/3 that confer risk of obesity in Europeanen. KU Leuven
Congenital deficiency of PC1/3, a proprotein convertase involved in the activation of many hormones and neuropeptdes, results in a multihormonal syndrome characterized by childhood obesity. Recently, non-synonymous variants of PC1/3 have been associated with polygenic obesity. These variants show only slightly reduced catalytic activity. Since PC1/3 knockout are not obese, but mice carying the still active (albeit with reduced activity) N222D ...