NR1A2 / THRB

thyroid hormone receptor, beta

Thyroid hormone receptor beta (TR beta), a NR1 Thyroid Hormone-Like Receptor, has been shown to affect cholesterol metabolism, hearing, cone development in the eye, and hypothalamopituitary-thyroid axis function. Mice lacking the TR beta locus exhibit elevated thyroid hormone levels, profound hearing loss, impaired weight gain, abnormal bone development, and loss of thyroid-hormone induced activation of cholesterol 7 alpha-hydroxylase (CYP7A). Mutation in the ligand-binding domain of TR beta has been linked to the genetic disorder Resistance to Thyroid Hormone (RTH), and possibly to human cone disorders. Congenital thyroid disorders that impair hearing and result in profound deafness are common in geographic areas with a prevalence of iodine deficiency. Two human TR beta protein isoforms have been identified: TR beta1 (461 aa), TR beta2 (476 aa). Two additional protein isoforms, TR beta3 (390 aa), and a non-DNA binding TR deltabeta3 (288 aa), have been documented in rat.

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