TSHB wt Allele

Preferred Label : TSHB wt Allele;

NCIt synonyms : TSH-BETA; Thyroid Stimulating Hormone Subunit Beta wt Allele; Thyroid Stimulating Hormone Beta Gene; Thyroid Stimulating Hormone, Beta Chain Gene; TSH-B; Thyrotropin, Beta Chain Gene;

NCIt definition : Human TSHB wild-type allele is located in the vicinity of 1p13.2 and is approximately 6 kb in length. This allele, which encodes thyrotropin subunit beta protein, plays a role in thyroid development and thyroid hormone production. Mutation of the gene is associated with congenital nongoitrous hypothyroidism type 4, congenital central and secondary hypothyroidism and Hashimoto's thyroiditis.;

NCI Metathesaurus CUI : CL1664802;

GenBank Accession Number : BC069298;

Détails

Origin ID

C181685;

UMLS CUI

C5551192;

Automatic exact mappings (from CISMeF team)
- Thyroid-stimulating hormone, beta chain [OMIM gene]
- thyrotropin, beta subunit [MeSH Descriptor]
OMIM relation
- Thyroid-stimulating hormone, beta chain [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.2 [NCIt concept]
gene_is_element_in_pathway
- Autoimmune Thyroid Disease Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Histogenic Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]

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

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