Skeletal muscle proteome analysis of Inuit homozygous carriers of the common Greenlandic TBC1D4 p.Arg684Ter variant

In the Greenlandic Inuit population, 17% are carriers of a nonsense TBC1D4 p.Arg684Ter variant. Homozygous variant carriers have impaired glucose tolerance and a 10-fold increased risk of type 2 diabetes. Here, we illuminate the consequences of lacking this muscle-specific long isoform of TBC1D4 during metabolic challenges in humans.