Q9H4A3

WNK1 also known as KDP, PRKWNK1 is a member of the WNK subfamily of serine/threonine protein kinases. Four WNK family members have been identified in humans (WNK1-4) and have been implicated in regulating ion permeability. Mutations in the WNK1 and WNK4 genes in humans cause pseudohypoaldosteronism type II (PHAII), an autosomal dominant disorder leading to hypertension, hyperkalemia, and renal tubular acidosis. WNK1 protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II.WNK4 is specifically expressed in the kidney, whereas WNK1 has a wider distribution but is predominantly expressed in polarized epithelia.