UCP2, uncoupling protein 2, 7351

N. diseases: 235; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.030 GeneticVariation disease BEFREE These data indicate that dominant UCP2 mutations are a more important cause of HI than has been recognized and that affected individuals are markedly hypersensitive to glucose-induced hypoglycemia. 27967291 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.030 Biomarker disease BEFREE It has been suggested, but not yet tested, that UCP2 plays a physiological role in β cells by coordinating insulin secretion capacity with anticipated fluctuating nutrient supply, such that upregulation of UCP2 in the inactive/fasted state inhibits GSIS as a mechanism to prevent hypoglycemia. 28702331 2017
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.030 Biomarker disease BEFREE Further to this, we created α-cell-specific UCP2 knockout (UCP2AKO) mice, which we used to demonstrate that blood glucose recovery in response to hypoglycemia is impaired owing to attenuated glucagon secretion. 23434936 2013