Gene content | ||||
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THRA ( by HUGO) | ||||
Thyroid Hormone Receptor, Alpha | ||||
Oncogene | ||||
Thyroid Hormone Receptor Alpha ERBA1 THRA1 THRA2 Thyroid Hormone Receptor Alpha (Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog Avian) Nuclear Receptor Subfamily 1 Group A Member 1 EAR-7 EAR7 NR1A1 c-erbA-alpha V-ErbA-Related Protein 7 CHNG6 Thyroid Hormone Receptor Alpha (Avian Erythroblastic Leukemia Viral (V-Erb-A) Oncogene Homolog) AR7 ERB-T-1 ERBA c-ERBA-1 ERBA-Related 7 Thyroid Hormone Receptor Alpha Thyroid Normone Nuclear Receptor Alpha Variant 1 Triiodothyronine Receptor c-erbA-1 | ||||
NCBI: 17q11.2 Ensembl: 17q21.1 | ||||
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Protein Domain/Family | ||||
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Source | ID | Domain | Name | Type |
InterPro | IPR000536 | Nucl_hrmn_rcpt_lig-bd_core | Nuclear hormone receptor, ligand-binding | Domain |
IPR001628 | Znf_hrmn_rcpt | Nuclear hormone receptor, DNA-binding | Domain | |
IPR001723 | Str_hrmn_rcpt | Steroid hormone receptor | Family | |
IPR001728 | ThyrH_rcpt | Thyroid hormone receptor | Family | |
IPR008946 | Nucl_hormone_rcpt_ligand-bd | Steroid nuclear receptor, ligand-binding | Domain | |
Blocks | IPB001723 | Steroid hormone receptor signature | Steroid hormone receptor signature | |
IPB001728 | Thyroid hormone receptor signature | Thyroid hormone receptor signature |
Disorder & Mutation | ||||
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Source | Disease | |||
Genatlas | hyperthyroxinemia,euthyroidal | |||
SWISS-PROT | Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry |
THRA cross reference | ||||||||
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