thyroid peroxidase
Zuletzt aktualisiert 18. Aug 2020
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Der TPO gene provides instructions for making an enzyme called thyroid peroxidase. This enzyme plays a central role in the function of the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroid peroxidase assists the chemical reaction that adds iodine to a protein called thyroglobulin, a critical step in generating thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).
Normal function
Der TPO gene provides instructions for making an enzyme called thyroid peroxidase. This enzyme plays a central role in the function of the thyroid gland, a butterfly-shaped tissue in the lower neck. Thyroid peroxidase assists the chemical reaction that adds iodine to a protein called thyroglobulin, a critical step in generating thyroid hormones. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).
To function properly, thyroid peroxidase must be located in the cell membrane of certain thyroid cells, called follicular cells. Thyroid peroxidase has several different versions (isoforms), which vary by size and location within the cell. Some versions do not function because they are not located in the cell membrane.
Conditions referring to this gene or chromosome
Other names
MSA
PERT_HUMAN
thyroid microsomal antigen
thyroperoxidase
TPX
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Weiterführende Lektüre und Referenzen
- thyroid peroxidase; MedlinePlus, National Library of Medicine.
- Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab. 2000 Oct;85(10):3708-12. doi: 10.1210/jcem.85.10.6878.
- Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, Boelaert K, Cetinkaya S, Tarim O, Bober E, Darendeliler F, Bas V, Demir K, Aydin BK, Kendall M, Cole T, Hogler W, Chatterjee VK, Barrett TG, Maher ER. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol (Oxf). 2013 Aug;79(2):275-81. doi: 10.1111/cen.12127. Epub 2013 May 6.
- Chardes T, Chapal N, Bresson D, Bes C, Giudicelli V, Lefranc MP, Peraldi-Roux S. The human anti-thyroid peroxidase autoantibody repertoire in Graves' and Hashimoto's autoimmune thyroid diseases. Immunogenetics. 2002 Jun;54(3):141-57. doi: 10.1007/s00251-002-0453-9. Epub 2002 May 3.
- Kotani T, Umeki K, Kawano J, Suganuma T, Hishinuma A, Ieiri T, Harada S. Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. Clin Endocrinol (Oxf). 2003 Aug;59(2):198-206. doi: 10.1046/j.1365-2265.2003.01823.x.
- Lee CC, Harun F, Jalaludin MY, Lim CY, Ng KL, Mat Junit S. Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism. Biomed Res Int. 2014;2014:370538. doi: 10.1155/2014/370538. Epub 2014 Mar 17.
- Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid. 2003 Dec;13(12):1145-51. doi: 10.1089/10507250360731550.
- Rivolta CM, Esperante SA, Gruneiro-Papendieck L, Chiesa A, Moya CM, Domene S, Varela V, Targovnik HM. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9175.
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18. Aug 2020 | Neueste Version
1 Sept 2015 | Ursprünglich veröffentlicht
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