Tags: Protein.
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy (PMID: 23707145) and Idiopathic generalised epilepsy (OMIM: 600699). CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.