Article
A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.
PloS one - 23 Jul 2008
Martinez Gilbert Q, Maduke Merritt
Abstract excerpt
BACKGROUND: ClC-Kb and ClC-Ka are homologous chloride channels that facilitate chloride homeostasis in the kidney and inner ear. Disruption of ClC-Kb leads to Bartter's Syndrome, a kidney disease. A point mutation in ClC-Kb, R538P, linked to Bartter's Syndrome and located in the C-terminal cytoplasmic domain was hypothesized to alter electrophysiological properties due to its proximity to an important...
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