CLCN2

Template:Short description Template:Cs1 config Template:Infobox gene 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 and Idiopathic generalised epilepsy (OMIM: 600699), although the latter claim has been disputed.

A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism, a form of arterial hypertension due to excessive production of aldosterone by the neuroendocrine cells of the zona glomerulosa of the adrenal gland. The mutation was found to cause a chloride leak in these cells and increased the expression of aldosterone synthase.

CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

See also

• Chloride channel

External links

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.