Preferred Label : thyroid hormone receptors beta;
MeSH definition : High affinity receptors for THYROID HORMONES, especially TRIIODOTHYRONINE. These receptors
are usually found in the nucleus where they regulate DNA transcription. They are encoded
by the THRB gene (also known as NR1A2, THRB1, or ERBA2 gene) as several isoforms produced
by alternative splicing. Mutations in the THRB gene cause THYROID HORMONE RESISTANCE
SYNDROME.;
MeSH synonym : c-erba beta; erba2 gene products; nr1a2 gene products; thrb gene products; receptors beta, thyroid hormone; c erba beta; gene products, thrb; tr beta; thyroid hormone receptor beta; gene products, erba2; gene products, nr1a2;
MeSH hyponym : thyroid hormone receptor beta-2; thyroid hormone receptor beta-1; Thyroid Hormone Receptor beta 2; Thyroid Hormone Receptor beta 1;
Wikipedia link : https://en.wikipedia.org/wiki/Thyroid hormone receptor beta;
Is substance : O;
Origin ID : D037042;
UMLS CUI : C0242469;
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Currated CISMeF NLP mapping
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Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
High affinity receptors for THYROID HORMONES, especially TRIIODOTHYRONINE. These receptors
are usually found in the nucleus where they regulate DNA transcription. They are encoded
by the THRB gene (also known as NR1A2, THRB1, or ERBA2 gene) as several isoforms produced
by alternative splicing. Mutations in the THRB gene cause THYROID HORMONE RESISTANCE
SYNDROME.