Ontology highlight
ABSTRACT:
SUBMITTER: Mannikko R
PROVIDER: S-EPMC2830823 | biostudies-literature | 2010 Mar
REPOSITORIES: biostudies-literature
Männikkö Roope R Jefferies Craig C Flanagan Sarah E SE Hattersley Andrew A Ellard Sian S Ashcroft Frances M FM
Human molecular genetics 20091218 6
ATP-sensitive potassium (K(ATP)) channels regulate insulin secretion from pancreatic beta-cells. Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes. We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy. Functional analysis revealed the F60Y mutation increases the intrinsic channel open probability (Po(0)), there ...[more]