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Reviewed June 2008
What is the official name of the SLC26A4 gene?
The official name of this gene is “solute carrier family 26 (anion exchanger), member 4.”
SLC26A4 is the gene's official symbol. The SLC26A4 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 SLC26A4 gene?
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 present in the kidneys, inner ear, and thyroid. The thyroid is a butterfly-shaped tissue at the base of the neck that releases hormones to help regulate growth and the rate of chemical reactions in the body (metabolism).
Although the function of pendrin is not fully understood, researchers have suggested particular roles for pendrin in various tissues. In the thyroid, pendrin probably transports iodide ions out of cells. The attachment of iodide ions to a protein called thyroglobulin is an important step in the production of thyroid hormones. In the inner ear, pendrin likely helps control the proper balance of charged particles such as chloride and bicarbonate ions. Maintaining the correct level of these ions is critical for the hearing process and for determining the amount of fluid that bathes the inner ear. The fluid level appears to be particularly important during development of the inner ear, and it may influence the shape of the 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 brain cavity.
Does the SLC26A4 gene share characteristics with other genes?
The SLC26A4 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 SLC26A4 gene related to health conditions?
Where is the SLC26A4 gene located?
Cytogenetic Location: 7q31
Molecular Location on chromosome 7: base pairs 107,660,634 to 107,717,808
The SLC26A4 gene is located on the long (q) arm of chromosome 7 at position 31.
More precisely, the SLC26A4 gene is located from base pair 107,660,634 to base pair 107,717,808 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC26A4?
You and your healthcare professional may find the following resources about SLC26A4 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 SLC26A4 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 SLC26A4?
acids ; amino acid ; anion ; arginine ; autosomal ; autosomal recessive ; bicarbonate ; carrier ; cell ; charged particles ; chloride ; cochlea ; DNA ; gene ; goiter ; histidine ; iodine ; ions ; ion transport ; leucine ; metabolism ; mutation ; population ; proline ; protein ; recessive ; solute ; spectrum ; syndrome ; threonine ; thyroglobulin ; thyroid ; thyroid hormones ; tissue ; vestibular aqueduct
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 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.