CAA29104.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
thyroglobulin
NCBI Official Synonym Full Names
thyroglobulin
NCBI Official Synonym Symbols
NCBI Protein Information
thyroglobulin
UniProt Protein Name
Thyroglobulin
UniProt Synonym Gene Names
UniProt Entry Name
THYG_HUMAN
NCBI Summary for TG
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]
UniProt Comments for TG
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: 8q24
Cellular Component: extracellular space; extracellular region
Molecular Function: hormone activity
Biological Process: regulation of myelination; iodide transport; thyroid gland development; hormone biosynthetic process; signal transduction; thyroid hormone metabolic process
Disease: Thyroid Dyshormonogenesis 3; Autoimmune Thyroid Disease, Susceptibility To, 3
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Pathways associated with TG native protein
Diseases associated with TG native protein
Organs/Tissues associated with TG native protein
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