Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

Abstract excerpt

Mutations of the human CLCN5 gene, which encodes the CLC-5 Cl(-)/H(+) exchanger, lead to Dent's disease. Mutations result in functional defects that range from moderate reductions to complete loss of whole cell currents, although the severity of the functional defect rarely correlates with the severity of the disease. To further elucidate the basis of CLC-5 mutations causing Dent's disease, we examined the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiac electrophysiology and arrhythmias
• Share to Cellular transport and secretion
• Share to Ion channel regulation and function