Characterization and Rescue of a Pathogenic D63N Mutant Human Glucagon Receptor That Causes a Pancreatic Neuroendocrine Tumor Syndrome (Mahvash disease)

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Introduction: We have previously demonstrated that inactivating glucagon receptor (GCGR) mutations cause a novel hereditary human disease of hyperglucagonemia, pancreatic α cell hyperplasia, and pancreatic neuroendocrine tumor (Mahvash disease). We recently identified a novel missense GCGR mutation, D63N, in a family with Mahvash disease.

Aim(s): To characterize and rescue the D63N mutant GCGR.

Materials and methods: An EGFP-tagged D63N (D63N-EGFP) was expressed in HEK 293 cells.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Yu R

Authors: Yu R, Zhou C, Chen C,

Keywords: Mutant glucagon receptor, chaperone, Mahvash disease,