STXBP6, syntaxin binding protein 6, 29091

N. diseases: 8; N. variants: 5
Disease: Diabetes Mellitus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 AlteredExpression group BEFREE Overexpression of SOX4 in the human insulin-secreting cell EndoC-βH2 interfered with granule emptying and inhibited hormone release, the latter effect reversed by silencing STXBP6 These data suggest that increased SOX4 expression inhibits insulin secretion and increased diabetes risk by the upregulation of STXBP6 and an increase in kiss-and-run exocytosis at the expense of full fusion. 26993066 2016