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CLCN2

Protein-coding gene in humans

Protein-coding gene in humans

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 (), 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.

References

References

  1. (March 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics.
  2. "Entrez Gene: CLCN2 chloride channel 2".
  3. (July 2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology.
  4. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin.
  5. (January 2010). "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics.
  6. (March 2018). "A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism". Nature Genetics.
  7. (April 2019). "Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels". Current Hypertension Reports.
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