Xavier Jeunemaitre, Jean-Jacques Schott and colleagues report mutations of KLHL3 in familial hyperkalemic hypertension. KLHL3 encodes a BTB-BACK-kelch family actin-binding protein and regulates cell surface localization of the NaNa+-Cl− cotransporter, a key regulator of ion resorption, at the distal nephron.
- Hélène Louis-Dit-Picard
- Julien Barc
- Xavier Jeunemaitre
