SLC26A4

SLC26A4 is a gene that provides instructions for making a protein called pendrin. This protein is found in several tissues in the body, including the inner ear and the thyroid, a gland in the neck that produces hormones regulating growth and metabolism. Pendrin is also found in the kidney, where it helps control the body's balance of chloride ions, a type of charged particle (ion). In the inner ear, pendrin helps maintain the proper balance of ions, which is critical for the normal function of hair cells that transmit sound and balance signals to the brain. In the thyroid, pendrin is involved in the formation of a hormone called thyroxine.

Function

The SLC26A4 gene provides instructions for making a protein that is found in the inner ear and thyroid. This protein, pendrin, plays a crucial role in maintaining the body's balance of certain ions and in the formation of a hormone called thyroxine.

Clinical significance

Mutations in the SLC26A4 gene are associated with Pendred syndrome and DFNB4, both of which are inherited conditions characterized by deafness and problems with balance. Pendred syndrome also typically involves the development of a goiter.

See also

• Pendred syndrome
• DFNB4
• Thyroxine
• Goiter

External links

• SLC26A4 at the U.S. National Library of Medicine's Genetics Home Reference

SLC26A4 Resources
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