Background

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.  disease: Defects in TG are a cause of some forms of goiter [MIM:188450]. Goiter is an enlargement of the thyroid gland. This is sometimes linked to hypothyroidism. disease: Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175]. AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic factors, such as infection. function: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).,online information: Thyroglobulin entry, PTM: Sulfated. similarity: Belongs to the type-B carboxylesterase/lipase family. similarity: Contains 11 thyroglobulin type-1 domains. subunit: Homodimer. tissue specificity: Thyroid gland specific.

Research Area

Autoimmune thyroid disease