TSH Receptor est un gène codé par le symbole TSHR. Il est également connu sous le nom de: Thyrotropin receptor; Thyroid-stimulating hormone receptor; TSH-R; TSHR; LGR3. TSH Receptor a une masse de 86.83kDa, une longueur d'acide aminé de 764, et est impliqué dans les maladies: Hypothyroidism, congenital, non-goitrous, 1; Familial gestational hyperthyroidism; Hyperthyroidism, non-autoimmune.
Nous proposons 12 des anticorps contre TSH Receptor, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). Plays a central role in controlling thyroid cell metabolism (By similarity).
Résumé Entrez
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.
Spécificité tissulaire
Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690).
Implication dans la maladie
Hypothyroidism, congenital, non-goitrous, 1: A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
Familial gestational hyperthyroidism: A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy.
Hyperthyroidism, non-autoimmune: A condition characterized by abnormally high levels of serum thyroid hormones, thyroid hyperplasia, goiter and lack of anti-thyroid antibodies. Typical features of Graves disease such as exophthalmia, myxedema, antibodies anti-TSH receptor and lymphocytic infiltration of the thyroid gland are absent.
Similitudes de séquence
Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Modification post-traductionnelle
Glycosylated.
Localisation cellulaire
Cell membrane. Basolateral cell membrane.
