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SLC16A2

SLC16A2

Reviewed May 2007

What is the official name of the SLC16A2 gene?

The official name of this gene is “solute carrier family 16, member 2 (thyroid hormone transporter).”

SLC16A2 is the gene's official symbol. The SLC16A2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC16A2 gene?

The SLC16A2 gene (also known as MCT8) provides instructions for making a protein that plays a critical role in nervous system development. This protein transports a particular hormone into nerve cells in the developing brain. This hormone, called triiodothyronine or T3, is produced by the thyroid (a butterfly-shaped gland in the lower neck). Once inside a nerve cell, T3 interacts with receptors in the nucleus that turn specific genes on or off. The activity of this hormone appears to be critical for the maturation of nerve cells, the movement of these cells to their proper locations (cell migration), and the formation of specialized cell outgrowths called dendrites. T3 may also play a role in the development of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.

In addition to the nervous system, T3 is produced in the liver, kidney, heart, and several other tissues. T3 and other forms of thyroid hormone help regulate the development of many organs and control the rate of chemical reactions in the body (metabolism).

Does the SLC16A2 gene share characteristics with other genes?

The SLC16A2 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC16A2 gene related to health conditions?

Allan-Herndon-Dudley syndrome - caused by mutations in the SLC16A2 gene

At least a dozen mutations in the SLC16A2 gene have been identified in people with the characteristic features of Allan-Herndon-Dudley syndrome. Some of these mutations insert or delete genetic material in the gene. Other mutations change single protein building blocks (amino acids) used to make the SLC16A2 protein. All of these genetic changes alter the structure and function of this protein, preventing it from transporting T3 into nerve cells effectively. A lack of this critical hormone in certain parts of the brain disrupts normal brain development, resulting in intellectual disability and problems with movement.

If T3 is not taken up by nerve cells, excess amounts of this hormone continue to circulate in the bloodstream. An increase in circulating T3 may be toxic to some organs, such as the liver. Researchers are working to determine whether increased T3 levels in the body contribute to the signs and symptoms of Allan-Herndon-Dudley syndrome.

Where is the SLC16A2 gene located?

Cytogenetic Location: Xq13.2

Molecular Location on the X chromosome: base pairs 74,421,492 to 74,533,928

The SLC16A2 gene is located on the long (q) arm of the X chromosome at position 13.2.

The SLC16A2 gene is located on the long (q) arm of the X chromosome at position 13.2.

More precisely, the SLC16A2 gene is located from base pair 74,421,492 to base pair 74,533,928 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC16A2?

You and your healthcare professional may find the following resources about SLC16A2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC16A2 gene or gene products?

  • DXS128E
  • MCT8
  • monocarboxylate transporter 8
  • MOT8_HUMAN
  • solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
  • solute carrier family 16 (monocarboxylic acid transporters), member 2
  • X-linked PEST-containing transporter
  • XPCT

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC16A2?

acids ; carrier ; cell ; disability ; gene ; hormone ; kidney ; metabolism ; nerve cell ; nervous system ; nucleus ; protein ; solute ; syndrome ; T3 ; thyroid ; toxic ; triiodothyronine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2007
Published: September 15, 2014