Kir6.1 and SUR2B in Cantu syndrome.

ABSTRACT: Kir6.1 and SUR2 are subunits of ATP-sensitive potassium (K_ATP) channels expressed in a wide range of tissues. Extensive study has implicated roles of these channel subunits in diverse physiological functions. Together they generate the predominant K_ATP conductance in vascular smooth muscle and are the target of vasodilatory drugs. Roles for Kir6.1/SUR2 dysfunction in disease have been suggested based on studies of animal models and human genetic discoveries. In recent years, it has become clear that gain-of-function (GoF) mutations in both genes result in Cantú syndrome (CS)-a complex, multisystem disorder. There is currently no targeted therapy for CS, but studies of mouse models of the disease reveal that pharmacological reversibility of cardiovascular and gastroint

SUBMITTER: McClenaghan C 

PROVIDER: S-EPMC9467476 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature