TSH Receptor è un gene codificato dal simbolo TSHR. È noto anche come: Thyrotropin receptor; Thyroid-stimulating hormone receptor; TSH-R; TSHR; LGR3. TSH Receptor ha una massa di 86.83kDa, una lunghezza di amminoacidi di 764, ed è implicato nella malattia: Hypothyroidism, congenital, non-goitrous, 1; Familial gestational hyperthyroidism; Hyperthyroidism, non-autoimmune.
Offriamo 12 anticorpi contro TSH Receptor, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.
Modifica post-translazionale
Glycosylated.
Posizione cellulare
Cell membrane. Basolateral cell membrane.
