Gene: THRA

Alternate names for this Gene: AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1

Gene Summary: The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.1

Description of this Gene: thyroid hormone receptor alpha

Type of Gene: protein-coding

rs2230701 in THRA gene and Body mass index PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

rs62065216 in THRA gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs1555545033 in THRA gene and Dysmorphic features PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

rs1555545033 in THRA gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

rs746765465 in THRA gene and Multiple congenital anomalies PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

rs746765465 in THRA gene and Muscle hypotonia PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

rs7502233 in THRA gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7502233 in THRA gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.