检测编号：NS0210045

基因 TG 与疾病

TG编码甲状腺球蛋白，甲状腺球蛋白与碘离子结合后改性分解，释放出甲状腺激素。甲状腺球蛋白也作为碘储存库和甲状腺激素储存库，在需要的时候释放甲状腺激素。已发现若干个突变，导致甲状腺球蛋白合成错误，形成严重的先天性甲低。

基因名称	基因全名	基因位置	外显子个数	CDS长度
TG	thyroglobulin	8q24	48	约8453 bp
基因摘要	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009].