Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[5][6] Mutations of this gene have been found to cause leukoencephalopathy[7] and Idiopathic generalised epilepsy (OMIM: 600699),[8] although the latter claim has been disputed.[9] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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see also disorders |