SLC5A5 : solute carrier family 5 member 5

Description

The SLC5A5 (solute carrier family 5 member 5) is a protein-coding gene located on chromosome 19.

The SLC5A5 gene provides instructions for making a protein called sodium (Na)-iodide symporter or NIS. This protein transports iodide, a negatively charged version of iodine, into cells of certain tissues. The NIS protein is found primarily in the thyroid gland, a butterfly-shaped tissue in the lower neck. The thyroid gland produces and releases iodide-containing thyroid hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). The NIS protein supports an efficient system that ensures iodine from the diet accumulates in the thyroid gland for the production of thyroid hormones. This system depends on the NIS protein being positioned in the cell membrane, so it can transport iodide from the bloodstream into particular thyroid cells called follicular cells. In addition to the thyroid gland, the NIS protein is found in breast tissue during milk production (lactation), ovaries, salivary glands, certain stomach cells (parietal cells), tear glands (lacrimal glands), and a part of the brain called the choroid plexus. During lactation, the NIS protein transports iodide into the milk to supply breast-fed infants with this critical component of thyroid hormones.

The SLC5A5 gene encodes a protein called the sodium/iodide symporter (NIS), which plays a crucial role in transporting iodide into the thyroid gland. This process is essential for the production of thyroid hormones. NIS can also transport other ions, including chlorate, thiocynate, nitrate, and selenocynate.

SLC5A5 is also known as NIS, TDH1.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing