Home > A. Molecular pathology > KCNJ11
KCNJ11
11p15.1 HGNC:6257 MIM.600937 Entrez:3767
Saturday 24 April 2004
Pathology
germline mutations in congenital hyperinsulinism
moderately activating mutations in KCNJ11 in relapsing diabetes (15718250)
Functionnal studies of mutations
| K67N | reduced K(ATP) current amplitude |
References
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Hum Mutat. 2009 Feb;30(2):170-80. PMID: 18767144
Huopio H, Shyng SL, Otonkoski T, Nichols CG. K(ATP) channels and insulin secretion disorders. Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E207-16. PMID: 12110524