The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells.
Contained within this complex is an iodide transporter (MIM.605646), thyroperoxidase (TPO) (MIM.274500), and a peroxide-generating system that includes DUOX1 (MIM.606758) and DUOX2 (MIM.606759).
Pathology
germline mutations of DUOX2 in
- congenital hypothyroidism (MIM.607200) ( 12110737, 16134168)
- Large Goiter in adults (18426362)
References
Moreno, J. C.; Bikker, H.; Kempers, M. J. E.; van Trotsenburg, A. S. P.; Baas, F.; de Vijlder, J. J. M.; Vulsma, T.; Ris-Stalpers, C. : Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. New Eng. J. Med. 347: 95-102, 2002. PubMed ID : 12110737
Vigone, M. C.; Fugazzola, L.; Zamproni, I.; Passoni, A.; Di Candia, S.; Chiumello, G.; Persani, L.; Weber, G. : Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum. Mutat. 26: 395, 2005. PubMed ID : 16134168