SLC26A4 : solute carrier family 26 member 4

Description

The SLC26A4 (solute carrier family 26 member 4) is a protein-coding gene located on chromosome 7.

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.

SLC26A4 is a sodium-independent transporter of chloride and iodide. It mediates electroneutral chloride-bicarbonate, chloride-iodide, and chloride-formate exchange with a 1:1 stoichiometry. It also mediates electroneutral iodide-bicarbonate exchange. SLC26A4 interacts with IQGAP1, which enhances its chloride-bicarbonate exchange activity.

SLC26A4 is also known as DFNB4, EVA, PDS, TDH2B.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing