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. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene.
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Protein Aliases: avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 1; c-erb-A thyroid hormone receptor; c-erbA-1; c-erbA-2; C-erbA-alpha; c-erbA-alpha2; c-erbA-beta; c-erbAalpha; c-erbAalpha2; EAR-7; ERBA-related 7; Nuclear receptor subfamily 1 group A member 1; Nuclear receptor subfamily 1 group A member 2; oncogene ERBA2; THR; thyroid hormone nuclear receptor beta variant 1; Thyroid hormone receptor alpha; thyroid hormone receptor alpha 1; thyroid hormone receptor alpha 1 (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 1 formerly ERBA1); Thyroid hormone receptor beta; thyroid hormone receptor beta 3; thyroid hormone receptor beta2delta; thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian); thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2); thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian); thyroid normone nuclear receptor alpha variant 1; TR alpha 1; TR alpha 2; TR beta; TRbeta2Delta; triiodothyronine receptor; V-erbA-related protein 7
Gene Aliases: 6430529J03Rik; AR7; AW259572; c-ERBA-1; C-ERBA-2; C-erba-alpha; C-ERBA-BETA; c-erbAbeta; CHNG6; EAR7; ERB-T-1; ERBA; ERBA1; ERBA2; GRTH; NR1A1; NR1A2; PRTH; RATT3REC; Rvr; T3R[a]; T3R[b]; T3Ralpha; T3Rbeta; T3rec; THR1; THRA; THRA1; THRA2; THRB; THRB1; THRB2; TRbeta