Molecular and in vivo phenotyping of missense variants of the human glucagon receptor.

ABSTRACT: Naturally occurring missense variants of G protein-coupled receptors with loss of function have been linked to metabolic disease in case studies and in animal experiments. The glucagon receptor, one such G protein-coupled receptor, is involved in maintaining blood glucose and amino acid homeostasis; however, loss-of-function mutations of this receptor have not been systematically characterized. Here, we observed fewer glucagon receptor missense variants than expected, as well as lower allele diversity and fewer variants with trait associations as compared with other class B1 receptors. We performed molecular pharmacological phenotyping of 38 missense variants located in the receptor extracellular domain, at the glucagon interface, or with previously suggested clinical implications. These v

SUBMITTER: van der Velden WJC 

PROVIDER: S-EPMC8829087 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature