Premium
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology
Author(s) -
Jentsch Thomas J.
Publication year - 2015
Publication title -
the journal of physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.802
H-Index - 240
eISSN - 1469-7793
pISSN - 0022-3751
DOI - 10.1113/jp270043
Subject(s) - distal convoluted tubule , chloride channel , ion channel , neurodegeneration , chemistry , microbiology and biotechnology , renal tubular acidosis , positional cloning , ion transporter , transport protein , biology , biochemistry , kidney , endocrinology , medicine , reabsorption , membrane , mutant , acidosis , gene , receptor , disease
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.