What is the Origin of THRB Gene?

The name is an acronym for Thyroid Hormone Receptor Beta, and its discovery was a landmark event in molecular endocrinology, identifying the specific transcription factor that translates the hormonal signal into cellular action. The gene's direct involvement in a human resistance syndrome cemented its clinical significance and its role as a key player in the thyroid signaling pathway.

What is the Mechanism of THRB Gene?

The TRβ protein functions as a ligand-dependent transcription factor, forming a heterodimer with the retinoid X receptor (RXR) to bind to specific DNA sequences. In the absence of T3, this complex recruits co-repressor proteins, actively suppressing gene transcription. Upon binding of T3, the receptor undergoes a conformational change, releases the co-repressors, recruits co-activators, and initiates the transcription of T3-responsive genes, thereby regulating cellular metabolism.

THRB Gene

Meaning

The THRB Gene encodes for the Thyroid Hormone Receptor Beta (TRβ), a crucial nuclear receptor protein that acts as the primary mediator of triiodothyronine (T3) action in target tissues. This gene product is essential for the negative feedback regulation of the pituitary gland and for T3’s physiological effects on metabolism, cardiac function, and central nervous system development. Pathogenic mutations in the THRB gene are the molecular basis for Resistance to Thyroid Hormone (RTH).