Sodium-hydrogen antiporter 3 regulator 1

Sodium-hydrogen antiporter 3 regulator 1 (also known as NHERF1) is a protein that in humans is encoded by the SLC9A3R1 gene. This protein is a critical component of the cellular machinery that regulates the activity of certain ion transporters in the plasma membrane.

Function

NHERF1 is a PDZ domain-containing protein. It binds to the carboxyl terminus of the sodium-hydrogen antiporter 3 (NHE3), an important regulator of sodium absorption in the kidney and intestine. By binding to NHE3, NHERF1 helps to control the rate of sodium-hydrogen exchange across the plasma membrane.

Clinical significance

Mutations in the SLC9A3R1 gene have been associated with an increased risk of idiopathic nephrolithiasis, a condition characterized by the formation of kidney stones without a known cause. Additionally, altered expression of NHERF1 has been observed in several types of cancer, including breast cancer and colorectal cancer, suggesting a potential role in tumor progression.

See also

• Sodium-hydrogen antiporter
• PDZ domain
• SLC9A3R1
• Nephrolithiasis
• Breast cancer
• Colorectal cancer

External links

• SLC9A3R1 at the National Center for Biotechnology Information

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