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

2026-01-15

Abstract excerpt

The pivotal role of K ir 5.1 ( 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 K ir 5.1 is rooted in its heteromeric association with K ir 4.1 (...

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Literature Corpus work
c2d990aa-6523-534b-97e1-4f7b8a100c3b
DOI
10.64898/2026.01.07.25343066
Open publication

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