Abstract
The Cl−/H+ antiporter ClC-5 has been linked to Dent's disease, an X-linked renal disease associated with low molecular weight proteinuria, hypercalciuria and nephrolithiasis. ClC-5 is expressed on early endosomes of proximal tubule cells, where it plays a critical role in endosomal function. The impact of Dent's disease-causing mutations on ClC-5 function has not been yet fully investigated. Here, we have analysed an unpublished mutation K115R and three published mutations, Y272C, N340K and K546E in terms of electrical activity and trafficking at the plasma membrane in Xenopus leavis oocytes.
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