The SLC26A4 gene provides instructions for making a protein called pendrin. This protein transports negatively charged particles (ions), including chloride, iodide, and bicarbonate, across cell membranes. Pendrin is produced in several organs and tissues, particularly the inner ear and thyroid gland.
The thyroid gland is a butterfly-shaped organ at the base of the neck that releases hormones to help regulate growth and the rate of chemical reactions in the body (metabolism). In the thyroid, pendrin is believed to transport iodide ions out of certain cells. Iodide is needed for the normal production of thyroid hormones.
In the inner ear, pendrin likely helps control the proper balance of ions, including chloride and bicarbonate. Maintaining the proper levels of these ions appears to be particularly important during development of the inner ear, and it may influence the shape of bony structures such as the cochlea and vestibular aqueduct. The cochlea is a snail-shaped structure that helps process sound. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull.
Pendrin is also found in other tissues, including the kidneys, liver, and lining of the airways. Researchers are studying the role of pendrin’s ion transport function in these tissues.
Other Names
PDS; pendrin; S26A4_HUMAN; solute carrier family 26 (anion exchanger), member 4; solute carrier family 26, member 4
Related Genetics Topics
- Nonsyndromic hearing loss — MedlinePlus Genetics
- Pendred syndrome — MedlinePlus Genetics
- Congenital hypothyroidism — MedlinePlus Genetics
- Hashimoto thyroiditis — MedlinePlus Genetics
- Age-related hearing loss — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5172
- OMIM: 605646
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
