Chloride channel protein 2

Definition:

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis.

References:

[1]. Ute I Scholl, et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat Genet. 2018 Mar;50(3):349-354. [Content Brief]

[2]. Fabio L Fernandes-Rosa, et al. A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. Nat Genet. 2018 Mar;50(3):355-361. [Content Brief]

[3]. Cécile Saint-Martin, et al. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat. 2009 Mar;30(3):397-405. [Content Brief]

[4]. María Isabel Niemeyer, et al. Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons. J Physiol. 2009 Apr 1;587(Pt 7):1387-400. [Content Brief]

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