Primary congenital hypothyroidism(先天性甲状腺功能低下)

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检测编号:NS0210042


基因 DUOX2 与疾病

DUOX2编码双氧化酶2,存在于甲状腺、唾液腺、消化道和呼吸道,双氧化酶2帮助产生过氧化氢。在甲状腺激素生成过程中,过氧化氢是最后一步。已发现若干突变位点与先天性甲低有关,这些突变导致过氧化氢生成减少。没有足够的过氧化氢,甲状腺激素生产中断。

基因名称基因全名基因位置外显子个数 CDS长度
DUOX2 dual oxidase 2 15q15.3 34 约6346 bp
基因摘要 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008].