TBX1 wt Allele

Preferred Label : TBX1 wt Allele;

NCIt synonyms : DGCR; TBX1C; DORV; T-Box 1 wt Allele; CTHM; CAFS; VCFS; TGA; DGS;

NCIt definition : Human TBX1 wild-type allele is located in the vicinity of 22q11.21 and is approximately 27 kb in length. This allele, which encodes T-box transcription factor TBX1, plays roles in regulation of transcription, proliferation of the thymus and auditory epithelium, and function of the parathyroid and heart. Mutations in this wt allele are associated with many features of 22q11.2 deletion syndrome.;

GenBank Accession Number : NM_080647;

Details

Origin ID

C75412;

UMLS CUI

C2699751;

False automatic mappings
- Double outlet right ventricle [ORDO Disease]
- Transposition of the great arteries [ORDO Disease]
OMIM relation
- T-box transcription factor 1 [OMIM gene]
See also inter- (CISMeF)
- Velocardiofacial syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients