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THRA Gene

Meaning

The gene encoding the thyroid hormone receptor alpha (TRα) protein, one of the two main nuclear receptors for thyroid hormones, T3 and T4. The TRα receptor is widely expressed in tissues and plays a particularly critical role in regulating heart rate, body temperature, metabolism, and development, especially in the central nervous system. Mutations in the THRA gene are associated with a syndrome of thyroid hormone resistance, typically presenting with features of hypothyroidism in tissues where TRα is predominant. This gene is fundamental to the action of thyroid hormones at the cellular level.