甲狀腺球蛋白(tg)是一種主要由甲狀腺產生的糖蛋白同二聚體。它作為合成甲狀腺素和三碘甲狀腺原氨酸的底物,以及儲存甲狀腺激素和碘的非活性形式。甲狀腺球蛋白是從內質網分泌到其碘化部位,隨后是甲狀腺素生物合成,在卵泡腔中。該基因突變導致甲狀腺激素單體生成障礙,表現為甲狀腺腫,并與中重度先天性甲狀腺功能減退癥相關。該基因多態性與自身免疫性甲狀腺疾病(aitd)的易感性有關,如graves病和橋本thryoiditis。
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.