功能： alternative products:Additional isoforms seem to exist,disease:Autoantibodies directed against the TSH receptor are directly responsible for the pathogenesis and hyperthyroidism of Graves disease (GRD) [MIM:275000]. Antibody interaction with the TSH receptor results in an uncontrolled receptor stimulation.,disease:Defects in TSHR are a cause of hyperthyroidism [MIM:603372]. Various types are known: autosomal dominant non-autoimmune hyperthyroidism (ADNH); sporadic congenital hyperthyroidism (SCH); hyperthyroidism associated with autonomously functioning thyroid nodules (AFTN), toxic multinodular goiter (TMNG) and hyperfunctioning thyroid adenomas (HTA). TMNG encompasses a spectrum of different clinical entities, ranging from a single hyperfunctioning nodule within an enlarged thyroid, to multiple hyperfunctioning areas scattered throughout the gland. HTA are discrete encapsulated neoplasms characterized by TSH-independent autonomous growth, hypersecretion of thyroid hormones, and TSH suppression.,disease:Defects in TSHR are a cause of thyroid neoplasms (papillary and follicular cancers).,disease:Defects in TSHR are the cause of congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]; also known as congenital hypothyroidism due to TSH resistance. CHNG1 is 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. CHNG1 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.,disease:Defects in TSHR are the cause of familial gestational hyperthyroidism (FGH) [MIM:603373].,disease:Defects in TSHR are the cause of non-autoimmune hyperthyroidism [MIM:609152]. In a subset of patients with 'congenital Graves disease' the hyperthyroidism is not caused by antithyroid antibodies, but rather by mutations in TSHR. The thyroid gland is enlarged in most patients with non-autoimmune hyperthyroidism, but features of Graves disease, such as thyroid-associated ophthalmopathy, pretibial myxedema, lymphocytic infiltration of the thyroid, and thyroid antibodies, are absent. Hyperthyroidism occurred at any time from the neonatal period to adulthood.,disease:Hyperthyroidism in iodine deficient areas is predominately caused by toxic thyroid nodules (TTNs). Somatic, constitutively activating mutations of the thyroid-stimulating hormone receptor (TSHR) and/or constitutively activating G(s)alpha mutations have been identified in TTNs. These mutations lead to TSH independent activation of the cAMP cascade resulting in thyroid growth and hormone production.,function:Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also acts as a receptor for thyrostimulin (GPA2+GPB5).,online information:Glycoprotein-hormone Receptors Information System,online information:The Singapore human mutation and polymorphism database,online information:TSH receptor entry,polymorphism:The Asp727Glu polymorphism is associated with Graves disease in a Russian population. The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR.,similarity:Belongs to the G-protein coupled receptor 1 family.,similarity:Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.,similarity:Contains 6 LRR (leucine-rich) repeats.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane ; Multi-pass membrane protein .
组织表达： Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690).
功能： alternative products:Additional isoforms seem to exist,disease:Autoantibodies directed against the TSH receptor are directly responsible for the pathogenesis and hyperthyroidism of Graves disease (GRD) [MIM:275000]. Antibody interaction with the TSH receptor results in an uncontrolled receptor stimulation.,disease:Defects in TSHR are a cause of hyperthyroidism [MIM:603372]. Various types are known: autosomal dominant non-autoimmune hyperthyroidism (ADNH); sporadic congenital hyperthyroidism (SCH); hyperthyroidism associated with autonomously functioning thyroid nodules (AFTN), toxic multinodular goiter (TMNG) and hyperfunctioning thyroid adenomas (HTA). TMNG encompasses a spectrum of different clinical entities, ranging from a single hyperfunctioning nodule within an enlarged thyroid, to multiple hyperfunctioning areas scattered throughout the gland. HTA are discrete encapsulated neoplasms characterized by TSH-independent autonomous growth, hypersecretion of thyroid hormones, and TSH suppression.,disease:Defects in TSHR are a cause of thyroid neoplasms (papillary and follicular cancers).,disease:Defects in TSHR are the cause of congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]; also known as congenital hypothyroidism due to TSH resistance. CHNG1 is 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. CHNG1 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.,disease:Defects in TSHR are the cause of familial gestational hyperthyroidism (FGH) [MIM:603373].,disease:Defects in TSHR are the cause of non-autoimmune hyperthyroidism [MIM:609152]. In a subset of patients with 'congenital Graves disease' the hyperthyroidism is not caused by antithyroid antibodies, but rather by mutations in TSHR. The thyroid gland is enlarged in most patients with non-autoimmune hyperthyroidism, but features of Graves disease, such as thyroid-associated ophthalmopathy, pretibial myxedema, lymphocytic infiltration of the thyroid, and thyroid antibodies, are absent. Hyperthyroidism occurred at any time from the neonatal period to adulthood.,disease:Hyperthyroidism in iodine deficient areas is predominately caused by toxic thyroid nodules (TTNs). Somatic, constitutively activating mutations of the thyroid-stimulating hormone receptor (TSHR) and/or constitutively activating G(s)alpha mutations have been identified in TTNs. These mutations lead to TSH independent activation of the cAMP cascade resulting in thyroid growth and hormone production.,function:Receptor for thyrothropin. Plays a central role in controlling thyroid cell metabolism. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Also acts as a receptor for thyrostimulin (GPA2+GPB5).,online information:Glycoprotein-hormone Receptors Information System,online information:The Singapore human mutation and polymorphism database,online information:TSH receptor entry,polymorphism:The Asp727Glu polymorphism is associated with Graves disease in a Russian population. The Glu727 allele and the heterozygous Asp727Glu genotype are related to higher risk of the disease. The Asp727Glu polymorphism significantly ameliorates G(s)alpha protein activation in the presence of the gain-of-function mutation Ala593Asn although it is functionally inert in the context of the wild-type TSHR.,similarity:Belongs to the G-protein coupled receptor 1 family.,similarity:Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.,similarity:Contains 6 LRR (leucine-rich) repeats.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Basolateral cell membrane ; Multi-pass membrane protein .
组织表达： Expressed in thyroide cells (at protein level) (PubMed:11847099). Expressed in the thyroid (PubMed:2610690).
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