THRB


Also found in: Acronyms.

THRB

A gene on chromosome 3p24.2 that encodes thyroid hormone receptor, beta, a nuclear hormone receptor for triiodothyronine, and one of several thyroid hormone receptors that mediate thyroid hormone’s biological activity.

Molecular pathology
THRB mutations cause generalised thyroid hormone resistance (GTHR), a condition characterised by goitre and high circulating thyroid hormone (T3–T4) levels and normal or slightly
elevated thyroid stimulating hormone (TSH).
References in periodicals archive ?
The THRA gene is expressed in cardiac and skeletal tissues, THRB splice variant 1 is expressed in brain, liver, and kidney, and THRB splice variant 2 is expressed in the hypothalamus and the pituitary.
4] Human genes: THRB, thyroid hormone receptor, beta; THRA, thyroid hormone receptor, alpha.
Leey and Cryer (1) nicely discuss a patient with a heterozygous mutation in the THRB gene and review the differential diagnosis.