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KCNJ5 Mutation

Meaning

A KCNJ5 Mutation refers to a specific, somatic or germline genetic alteration in the KCNJ5 gene, which encodes the G-protein-coupled inwardly rectifying potassium channel, Kir3.4. This mutation is the most common genetic driver identified in aldosterone-producing adenomas (APAs), which are a frequent cause of primary aldosteronism. The presence of this mutation fundamentally alters the electrical properties of the adrenal zona glomerulosa cells, leading to an inappropriate and excessive production of the mineralocorticoid aldosterone. Clinical identification of this mutation is increasingly important for tailoring the surgical versus medical management of primary aldosteronism.