Referenced in: none

Automatically associated channels: Kir4.1 , Kir5.1 , Slo1

Title: Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.

Authors: Masayuki Tanemoto, Takaaki Abe, Shunya Uchida, Katsumasa Kawahara

Journal, date & volume: FEBS Lett., 2014 Mar 18 , 588, 899-905

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24561201

Abstract
The Kir4.1/Kir5.1 channel mediates basolateral K(+) recycling in renal distal tubules; this process is critical for Na(+) reabsorption at the tubules. Mutations in Kir4.1 are associated with EAST/SeSAME syndrome, a genetic disorder characterized by renal salt wasting. In this study, we found that MAGI-1 anchors Kir4.1 channels (Kir4.1 homomer and Kir4.1/Kir5.1 heteromer) and contributes to basolateral K(+) recycling. The Kir4.1 A167V mutation associated with EAST/SeSAME syndrome caused mistrafficking of the mutant channels and inhibited their expression on the basolateral surface of tubular cells. These findings suggest mislocalization of the Kir4.1 channels contributes to renal salt wasting.