WNK1

WNK1 (With No Lysine (K) 1) is a gene that encodes a member of the WNK subfamily of serine/threonine-protein kinase. The protein encoded by this gene plays a key role in the regulation of electrolyte homeostasis, cellular signaling, and cellular transport pathways.

Function

The WNK1 gene is involved in the regulation of various cellular processes. It is known to regulate the activity of several types of ion transport proteins, including the sodium, potassium, and chloride transporters. This regulation is crucial for maintaining the balance of these ions in the body, which is essential for normal cellular function and overall homeostasis.

Clinical significance

Mutations in the WNK1 gene have been associated with a form of hypertension known as pseudohypoaldosteronism type II (PHAII), also known as Gordon's syndrome. This condition is characterized by high blood pressure, increased levels of potassium in the blood (hyperkalemia), and metabolic acidosis.

See also

• Serine/threonine-protein kinase
• Pseudohypoaldosteronism
• Hypertension

References

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