NCIt definition : Human CLCN2 wild-type allele is located in the vicinity of 3q27.1 and is approximately
15 kb in length. This allele, which encodes chloride channel protein 2, plays a role
in direct transport of chloride ions, calcium ion homeostasis and the regulation of
aldosterone synthase expression. Mutation of the gene is associated with familial
hyperaldosteronism type 2 and leukoencephalopathy with ataxia.;
NCIt note : Variations in the CLCN2 gene may also be associated with juvenile myoclonic epilepsy
8, juvenile (childhood) absence epilepsy 2 and idiopathic generalized epilepsy 11.;
OMIM relation