The thrb gene encodes a thyroid hormone receptor beta, which is a DNA-binding transcription factor and a nuclear hormone receptor. It functions as a ligand-activated transcriptional regulator, mediatin...[+]

The thrb gene encodes a thyroid hormone receptor beta, which is a DNA-binding transcription factor and a nuclear hormone receptor. It functions as a ligand-activated transcriptional regulator, mediating the effects of thyroid hormones like t3 during development, particularly in metamorphosis. Its expression is detected in the brain, eye, inner ear, and limb buds. The thrb protein localizes to the nucleus where it binds to specific thyroid hormone response elements in DNA to regulate the transcription of target genes involved in neuronal differentiation, hindbrain development, and photoreceptor formation. [-]

             selective pituitary thyroid hormone resistance

          THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTHR
          THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD