TG: Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). Defects in TG are the cause of thyroid dyshormonogenesis 3 (TDH3). A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3). 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. Belongs to the type-B carboxylesterase/lipase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 15 D2|15 29.3 cM
Cellular Component: endoplasmic reticulum; extracellular region; extracellular space; Golgi apparatus; perinuclear region of cytoplasm; protein complex
Molecular Function: anion binding; chaperone binding; hormone activity; protein complex binding; protein homodimerization activity; receptor binding
Biological Process: hormone biosynthetic process; iodide transport; regulation of myelination; response to pH; thyroid hormone generation; thyroid hormone metabolic process; transcytosis
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