CLDN16A gene on chromosome 3q28 that encodes claudin-16, an integral membrane protein of the claudin family, the members of which form a physical barrier that prevents solutes and water from passing freely into the interstitial space between epithelial or endothelial cell sheets, and play critical roles in maintaining cell polarity and signal transduction. Claudin-16 is located primarily in the kidneys, specifically in the thick ascending limb of Henle’s loop, where it acts as either an intercellular pore or ion concentration sensor to regulate magnesium resorption.
CLDN16 mutation causes primary hypomagnesaemia, which is characterised by severe renal magnesium wasting with hypomagnesaemia and hypercalciuria, resulting in nephrocalcinosis and renal failure.
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