Gene SLC12A6

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Also known as

KCC3, ACCPN, KCC3A, KCC3B, CMT2II

Overview

The SLC12A6 (Solute Carrier Family 12 Member 6) gene was first cloned and characterized in the late 1990s. The SLC12A6 gene is located on chromosome 17q25.3 and it encodes a protein called KCC3, which is a member of the potassium-chloride cotransporter family. KCC3 is a membrane protein that helps to transport potassium and chloride ions across cell membranes. KCC3 is expressed in a variety of tissues, including the brain, kidneys, and small intestine, and it plays important roles in several physiological processes, including fluid balance, electrolyte homeostasis, and nerve impulse transmission. Dysregulation of the SLC12A6 gene has been linked to several diseases, including epilepsy and hypertension.

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