Gene: TSHR

Alternate names for this Gene: CHNG1|LGR3|hTSHR-I

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q31.1

Description of this Gene: thyroid stimulating hormone receptor

Type of Gene: protein-coding

Gene: LOC101928462

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs17111530 in TSHR;LOC101928462 gene and Dental caries of smooth surface PMID 24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.

rs121908863 in TSHR;LOC101928462 gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 PMID 9185526 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

PMID 7528344 1995 Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.

PMID 10720030 2000 Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.

PMID 11095460 2000 A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.

PMID 12050212 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.

PMID 14725684 2004 Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.

PMID 9100579 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.

PMID 9329388 1997 Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.

PMID 8954020 1996 Four families with loss of function mutations of the thyrotropin receptor.

PMID 15531543 2004 Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 25978107 2015 Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.

PMID 12629076 2003 The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.

PMID 20718767 2010 Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

PMID 27255745 2016 Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome.

PMID 22876533 2012 TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.