thyroid stimulating hormone receptor
Last updated 18 Aug 2020
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The TSHR gene provides instructions for making a protein, known as a receptor, that attaches (binds) to 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 binds to the extracellular portion of the receptor like a key fitting into a lock, 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).
Normal function
The TSHR gene provides instructions for making a protein, known as a receptor, that attaches (binds) to 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 binds to the extracellular portion of the receptor like a key fitting into a lock, 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).
Conditions referring to this gene or chromosome
Other names
LGR3
thyrotropin receptor
TSH Receptors
TSHR_HUMAN
Related patient information and medicines
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Further reading and references
- thyroid stimulating hormone receptor; MedlinePlus, National Library of Medicine.
- Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest. 1997 Jun 15;99(12):3018-24. doi: 10.1172/JCI119497.
- Bas VN, Cangul H, Agladioglu SY, Kendall M, Cetinkaya S, Maher ER, Aycan Z. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation. J Pediatr Endocrinol Metab. 2012;25(11-12):1153-6. doi: 10.1515/jpem-2012-0211.
- Biebermann H, Schoneberg T, Krude H, Schultz G, Gudermann T, Gruters A. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab. 1997 Oct;82(10):3471-80. doi: 10.1210/jcem.82.10.4286.
- Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Hogler W, Barrett TG, Maher ER. TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. J Pediatr Endocrinol Metab. 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053.
- Cangul H, Saglam H, Saglam Y, Eren E, Dogan D, Kendall M, Tarim O, Maher ER, Barrett TG. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):1021-5. doi: 10.1515/jpem-2014-0048.
- Castro I, Lima L, Seoane R, Lado-Abeal J. Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas. Thyroid. 2009 Jun;19(6):645-9. doi: 10.1089/thy.2009.0002.
- Davies TF, Ando T, Lin RY, Tomer Y, Latif R. Thyrotropin receptor-associated diseases: from adenomata to Graves disease. J Clin Invest. 2005 Aug;115(8):1972-83. doi: 10.1172/JCI26031.
- Gozu H, Avsar M, Bircan R, Sahin S, Ahiskanali R, Gulluoglu B, Deyneli O, Ones T, Narin Y, Akalin S, Cirakoglu B. Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma? Thyroid. 2004 Nov;14(11):975-80. doi: 10.1089/thy.2004.14.975.
- Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158.
- Refetoff S. Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug;26(8):770-9. doi: 10.1007/BF03347364.
- Russo D, Costante G, Bruno R, Sponziello M, Tamburrano G, Dima M, Sacco R, Giacomelli L, Durante C, Filetti S. TSH receptor extracellular region mutations in thyroid functioning nodules: further evidence for the functional role of this region in the receptor activation. Endocrine. 2011 Dec;40(3):492-4. doi: 10.1007/s12020-011-9525-7. Epub 2011 Aug 24. No abstract available.
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