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TG gene

thyroglobulin
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Normal Function

The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. This protein is found only in the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroglobulin combines with iodine and is modified and broken down to release small molecules known as thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Thyroglobulin also serves as a protein storehouse for iodine and inactive thyroid hormone until these substances are needed.

Health Conditions Related to Genetic Changes

Congenital hypothyroidism

Mutations in the TG gene can cause congenital hypothyroidism, a condition characterized by abnormally low levels of thyroid hormones starting from birth. The TG gene mutations involved in this condition either delete a small segment of the TG gene or change one of the DNA building blocks (base pairs). As a result, the 3-dimensional shape of thyroglobulin is altered, reducing the amount of properly structured protein that is available for thyroid hormone production. In most affected individuals, the thyroid gland is enlarged (goiter) in an attempt to compensate for reduced hormone production. Because cases caused by TG gene mutations are due to a disruption of thyroid hormone synthesis, they are classified as thyroid dyshormonogenesis.

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Graves disease

MedlinePlus Genetics provides information about Graves disease

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Hashimoto thyroiditis

MedlinePlus Genetics provides information about Hashimoto thyroiditis

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Other disorders

TG gene mutations have also been identified in some people who have a goiter but normal or near normal thyroglobulin levels. These mutations either delete part of the TG gene or change one of the DNA base pairs. As a result, the 3-dimensional shape of thyroglobulin is altered, reducing the amount of properly structured protein that is available for thyroid hormone production. The thyroid gland enlarges, forming a goiter, to compensate for decreased levels of thyroglobulin. With this compensation, thyroid hormone levels are normal, so affected individuals do not have other signs and symptoms of congenital hypothyroidism (described above). It is unclear why enlargement of the thyroid gland can compensate in some affected individuals but not others (leading to congenital hypothyroidism).

Other Names for This Gene

  • AITD3
  • TGN
  • THYG_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):15119-24. Epub 2003 Dec 1. Citation on PubMed or Free article on PubMed Central
  • Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab. 2003 Aug;88(8):3546-53. Citation on PubMed
  • Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM. New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16. Citation on PubMed
  • Dong YH, Fu DG. Autoimmune thyroid disease: mechanism, genetics and current knowledge. Eur Rev Med Pharmacol Sci. 2014;18(23):3611-8. Review. Citation on PubMed
  • González-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E, Miralles-Garcia JM. Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid. 2001 Aug;11(8):789-93. Citation on PubMed
  • Targovnik HM, Citterio CE, Rivolta CM. Thyroglobulin gene mutations in congenital hypothyroidism. Horm Res Paediatr. 2011;75(5):311-21. doi: 10.1159/000324882. Epub 2011 Mar 3. Review. Citation on PubMed
  • Tomer Y, Greenberg D. The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease. Trends Mol Med. 2004 Jul;10(7):306-8. Review. Citation on PubMed
  • van de Graaf SA, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de Vijlder JJ. Up to date with human thyroglobulin. J Endocrinol. 2001 Aug;170(2):307-21. Citation on PubMed
  • Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Naturally occurring mutations in the thyroglobulin gene. Thyroid. 2005 Sep;15(9):1021-33. Review. Citation on PubMed
  • Wiersinga WM. Thyroid autoimmunity. Endocr Dev. 2014;26:139-57. doi: 10.1159/000363161. Epub 2014 Aug 29. Review. Citation on PubMed
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