Type, location and zygosity of KCNJ16 mutations may determine the clinical severity of Hypokalemic Tubulopathy and Deafness (HkTD)

2026-01-15 nephrology Title + abstract only

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The pivotal role of Kir5.1 (KCNJ16) in maintaining electrolyte and acid-base homeostasis was demonstrated by animal studies and highlighted by the identification of disease-causing mutations in KCNJ16 resulting in a complex tubulopathy with variable severity. Although the underlying molecular mechanisms remain elusive, the modus operandi of Kir5.1 is rooted in its heteromeric association with Kir4.1 (KCNJ10) and Kir4.2 (KCNJ15). The ubiquitous expression of KCNJ16 and the heterogenous clinical p...

Type, location and zygosity of KCNJ16 mutations may determine the clinical severity of Hypokalemic Tubulopathy and Deafness (HkTD)

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