Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl^-/H⁺ Antiporter ClC-5.

ABSTRACT: Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl^-/H⁺ antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Expression of the Bartter-like DD1 mutant ClC-5 G261E in HEK293T cells showed that it is retained in the ER and lacks the complex glycosylation typical for ClC-5 WT. Accordingly, the mutant abolished CLC ionic transport. Such phenotype is not unusual and is often observed als

SUBMITTER: Wojciechowski D 

PROVIDER: S-EPMC6206076 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature