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Liu, R. TG Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5585 (accessed on 15 October 2024).
Liu R. TG Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5585. Accessed October 15, 2024.
Liu, Rui. "TG Gene" Encyclopedia, https://encyclopedia.pub/entry/5585 (accessed October 15, 2024).
Liu, R. (2020, December 25). TG Gene. In Encyclopedia. https://encyclopedia.pub/entry/5585
Liu, Rui. "TG Gene." Encyclopedia. Web. 25 December, 2020.
TG Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tg

Thyroglobulin: The TG gene provides instructions for making a protein called thyroglobulin, one of the largest proteins in the body. 

genes

1. 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.

2. Health Conditions Related to Genetic Changes

2.1. 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.

 

2.2. 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).

Graves disease

Hashimoto thyroiditis

3. Other Names for This Gene

  • AITD3
  • TGN
  • THYG_HUMAN

References

  1. Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y. Aminoacid substitutions in the thyroglobulin gene are associated with susceptibilityto human and murine autoimmune thyroid disease. Proc Natl Acad Sci U S A. 2003Dec 9;100(25):15119-24.
  2. 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.
  3. 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: molecularanalysis 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.
  4. Dong YH, Fu DG. Autoimmune thyroid disease: mechanism, genetics and currentknowledge. Eur Rev Med Pharmacol Sci. 2014;18(23):3611-8. Review.
  5. González-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E,Miralles-Garcia JM. Monoallelic deletion in the 5' region of the thyroglobulingene as a cause of sporadic nonendemic simple goiter. Thyroid. 2001Aug;11(8):789-93.
  6. Targovnik HM, Citterio CE, Rivolta CM. Thyroglobulin gene mutations incongenital hypothyroidism. Horm Res Paediatr. 2011;75(5):311-21. doi:10.1159/000324882.
  7. Tomer Y, Greenberg D. The thyroglobulin gene as the first thyroid-specificsusceptibility gene for autoimmune thyroid disease. Trends Mol Med. 2004Jul;10(7):306-8. Review.
  8. van de Graaf SA, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de VijlderJJ. Up to date with human thyroglobulin. J Endocrinol. 2001 Aug;170(2):307-21.
  9. Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Naturallyoccurring mutations in the thyroglobulin gene. Thyroid. 2005 Sep;15(9):1021-33.Review.
  10. Wiersinga WM. Thyroid autoimmunity. Endocr Dev. 2014;26:139-57. doi:10.1159/000363161.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Rui Liu
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Entry Collection: MedlinePlus
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Update Date: 25 Dec 2020
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