 In humans, it is encoded by the gene "SLC12A3" (solute carrier family 12 member 3) located in 16q13.A loss of NCC function causes Gitelman syndrome, an autosomic recessive disease characterized by salt wasting and low blood pressure, hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.Over a hundred different mutations in the NCC gene have been identified.