THRA gene

thyroid hormone receptor, alpha

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

From UniProt:

Isoform Alpha-1: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.

Isoform Alpha-2: Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hypothyroidism, congenital, nongoitrous, 6

From UniProt:

Hypothyroidism, congenital, non-goitrous, 6 (CHNG6): A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance. [MIM:614450]

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 40,062,193 to 40,093,867 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2
  • AR7
  • c-ERBA-1
  • CHNG6
  • EAR7
  • ERB-T-1
  • ERBA
  • ERBA1
  • NR1A1
  • THRA1
  • THRA2