Endocrine Abstracts

Introduction: The endoplasmic reticulum enzyme glucose-6-phosphatase catalyzes the common terminal reaction in the gluconeogenic and glycogenolytic pathways and plays a central role in glucose homeostasis. In most mammals, different G6PC subunits are encoded by three paralogous genes (G6PC, G6PC2, and G6PC3). Mutations in G6PC and G6PC3 are responsible for human Mendelian diseases, whereas variants in G6PC2 are associated with fasting glucose (FG) levels.<p class="abstext"...