Referenced in: none

Automatically associated channels: ClC4

Title: Discovery of CLC transport proteins: Cloning, structure, function and pathophysiology.

Authors: Thomas J Jentsch

Journal, date & volume: J. Physiol. (Lond.), 2015 Jan 15 , ,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25590607

Abstract
After providing a personal description of the convoluted path leading 25 years ago to the molecular identification of the Torpedo Cl(-) channel ClC-0 and the discovery of the CLC gene family, I succinctly describe the general structural and functional features of these ion transporters before giving a short overview of mammalian CLCs. These can be categorized into plasma membrane Cl(-) channels and vesicular Cl(-) /H(+) -exchangers. They are involved in the regulation of membrane excitability, transepithelial transport, extracellular ion homeostasis, endocytosis and lysosomal function. Diseases caused by CLC dysfunction include myotonia, neurodegeneration, deafness, blindness, leukodystrophy, male infertility, renal salt loss, kidney stones and osteopetrosis, revealing a surprisingly broad spectrum of biological roles for chloride transport that was unsuspected when I set out to clone the first voltage-gated chloride channel.