Thyrotropin receptor
Thyrotropin receptor (also known as TSH receptor or TSHR) is a protein that in humans is encoded by the TSHR gene. It is a member of the G protein-coupled receptor (GPCR) family. The TSHR and its endogenous ligand, thyroid-stimulating hormone (TSH, also known as thyrotropin), are the primary regulators of thyroid gland growth and function.
Structure
The TSHR gene is located on the long arm of chromosome 14 (14q31). The receptor is composed of 764 amino acids and has a molecular weight of approximately 85 kDa. It consists of a large extracellular domain, a seven-transmembrane domain, and an intracellular domain.
Function
The primary function of the TSHR is to regulate the production and release of thyroid hormones, thyroxine (T4) and triiodothyronine (T3), from the thyroid gland. TSH, released from the anterior pituitary gland, binds to the TSHR, activating the receptor and stimulating the production and release of T4 and T3.
Clinical significance
Mutations in the TSHR gene can lead to a variety of thyroid disorders. For example, activating mutations can cause hyperthyroidism (overactive thyroid), while inactivating mutations can lead to hypothyroidism (underactive thyroid). The TSHR is also the target of autoantibodies in Graves' disease, an autoimmune disorder that results in hyperthyroidism.
See also
References
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