NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.

ABSTRACT: Among the electroneutral Na⁺-dependent chloride transporters, NKCC1 had until now evaded identification as a protein causing human diseases. The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman syndromes: two renal-dependent salt wasting disorders. Absence of disease was most surprising since the NKCC1 knockout mouse was shown in 1999 to be viable, albeit with a wide range of deleterious phenotypes. Here we summarize the work of the past 5 years that introduced us to clinical cases involving NKCC1. The most striking cases are of 3 children with inherited mutations, who have complete absence of NKCC1 expression. These cases establish that lack of NKCC1 causes deafness; CFTR-like secretory defe

SUBMITTER: Koumangoye R 

PROVIDER: S-EPMC7727275 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature