THRB wt Allele

Preferred Label : THRB wt Allele;

NCIt synonyms : ERBA2; THRB1; Thyroid Hormone Receptor Beta Gene; Thyroid Hormone Receptor, Beta (Erythroblastic Leukemia Viral (V-ERB-A) Oncogene Homolog 2, Avian) wt Allele; THRB2; THR1;

NCIt definition : Human THRB wild-type allele is located in the vicinity of 3p24.2 and is approximately 377 kb in length. This allele, which encodes thyroid hormone receptor beta-1 protein, plays a role in the progression of the thyroid hormone signaling pathway. Mutations in the gene, which occur in the hormone-binding region, are associated with generalized resistance to thyroid hormone.;

GenBank Accession Number : NM_000461;

Détails

Origin ID

C53113;

UMLS CUI

C1710295;

OMIM relation
- Thyroid hormone receptor, beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p24.3 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Homeostatic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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