THRA
Description
The THRA (thyroid hormone receptor alpha) is a protein-coding gene located on chromosome 17.
The THRA gene encodes the thyroid hormone receptor alpha (TR-alpha), a nuclear receptor protein that binds triiodothyronine. It's one of several receptors for thyroid hormone and mediates its biological activity. While different receptors may have some redundancy, knockout studies in mice suggest they play distinct roles in thyroid hormone function. The THRA gene has been linked to nongoitrous congenital hypothyroidism-6, a type of congenital hypothyroidism. Mutations in this gene can lead to this condition.
This isoform acts as a nuclear hormone receptor, capable of both repressing and activating transcription. It binds with high affinity to thyroid hormones, including triiodothyronine and thyroxine.
THRA is also known as AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, THRalpha, THRalpha1, THRalpha2, TRalpha, TRalpha1, TRalpha2, c-ERBA-1, c-erbA.
