TBX19 wt Allele

Preferred Label : TBX19 wt Allele;

NCIt synonyms : TBS19; T-Box Transcription Factor 19 wt Allele; dJ747L4.1; T-Box 19 Gene; TBS 19; T-Box Factor, Pituitary Gene; TPIT;

NCIt definition : Human TBX19 wild-type allele is located in the vicinity of 1q24.2 and is approximately 34 kb in length. This allele, which encodes T-box transcription factor TBX19 protein, plays a role in the activation of POMC gene expression and the repression of CGA and TSHB gene expression. Mutations in this gene are associated with isolated adrenocorticotropic hormone (ACTH) deficiency.;

NCI Metathesaurus CUI : CL1791981;

GenBank Accession Number : AJ010277;

Details

Origin ID

C187090;

UMLS CUI

C5702830;

OMIM relation
- T-box transcription factor 19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- T-box transcription factor 19 [OMIM gene]
- T-box transcription factor 19 [ORDO Gene]
- T-box transcription factor 19 [HGNC gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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