Endocrine Abstracts

Prohormone convertase 1/3 (PC1/3), encoded by protein convertase subtilisin kexin type 1 (PCSK1), converts inactive prohormones such as pro-opiomelanocortin, proinsulin, proglucagon into biologically active peptides. Inherited genomic mutations of PCSK1 present with malabsorptive diarrhoea, hyperinsulinemic hypoglycaemia, central adrenal and thyroid defects and severe obesity. Somatic mutations of insulinomas are associated with genetic defects interfering with insulin secreti...