Function
The Solute carrier family 12 consists of 9 members which encode electroneutral cation-coupled chloride cotransporters. Solute carrier family 12 member 2 (NKCC 2) is a Na+/K+/Cl- cotransporter across membranes, involved in chloride transport, metal ion transport and positive regulation of cell volume. NKCCs play a vial role in the regulation of ionic balance. NKCCs utilize the existing Na+ and K+ gradients to move Cl- into or out of cells[1]. NKCC 4 mediates the couple movement of K+ and Cl- ions across the plasma membrane.
Disease
Mutations in NKCC 2 cause neurodevelopmental disorder non-syndromic hearing loss[2]. Mutations in NKCC 3 play pathogenic effects in Gitelman syndrome[3]. Polymorphism in NKCC 3 contribute to genetic susceptibility to diabetic nephropathy and essential hypertension[4]. Mutations in NKCC 6 are associated with severe sensorimotor neuropathy (ACCPN)[5].
Structural highlights
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