THRA
Domain
Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
Function
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR1 subfamily.
Cellular localization
- Nucleus
- Isoform Alpha-2
- Cytoplasm
- Nucleus
- When overexpressed found in the cytoplasm where it colocalizes with TACC1.
Alternative names
EAR7, ERBA1, NR1A1, THRA1, THRA2, THRA, Thyroid hormone receptor alpha, Nuclear receptor subfamily 1 group A member 1, V-erbA-related protein 7, c-erbA-1, c-erbA-alpha, EAR-7