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Reviewed May 2006
What is the official name of the TSHR gene?
The official name of this gene is “thyroid stimulating hormone receptor.”
TSHR is the gene's official symbol. The TSHR 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 TSHR gene?
The TSHR gene provides instructions for making a receptor that serves as a customized binding site for a hormone called thyroid stimulating hormone (TSH). This receptor spans the membrane of certain cells (called follicular cells) in the thyroid gland, a butterfly-shaped tissue in the lower neck. A large part of the receptor sits on the outer surface of the cell (extracellular), and a small portion is retained inside the cell (intracellular). Thyroid stimulating hormone is made in a gland at the base of the brain (the pituitary gland) and travels through the bloodstream to the thyroid gland. This hormone binds to the extracellular portion of the receptor, activating a series of reactions that control development of the thyroid gland and its functions. Among its functions, the thyroid gland produces iodine-containing hormones (thyroid hormones), which help regulate growth, brain development, and the rate of chemical reactions in the body (metabolism).
How are changes in the TSHR gene related to health conditions?
Genetics Home Reference provides information about Graves disease, which is also associated with changes in the TSHR gene.
Where is the TSHR gene located?
Cytogenetic Location: 14q31
Molecular Location on chromosome 14: base pairs 80,954,988 to 81,146,301
The TSHR gene is located on the long (q) arm of chromosome 14 at position 31.
More precisely, the TSHR gene is located from base pair 80,954,988 to base pair 81,146,301 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TSHR?
You and your healthcare professional may find the following resources about TSHR 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 TSHR 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 TSHR?
acids ; autosomal ; autosomal dominant ; benign ; cell ; congenital ; extracellular ; gene ; goiter ; hereditary ; hormone ; hyperplasia ; hyperthyroidism ; hypothyroidism ; inherited ; intracellular ; iodine ; metabolism ; mutation ; pituitary gland ; rapid heart beat ; receptor ; sporadic ; thyroid ; thyroid hormones ; tissue ; toxic ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.