TBX3 wt Allele

Preferred Label : TBX3 wt Allele;

NCIt synonyms : T-Box 3 wt Allele; Ulnar Mammary Syndrome Gene; XHL; TBX3-ISO; UMS;

NCIt definition : Human TBX3 wild-type allele is located in the vicinity of 12q24.1 and is approximately 14 kb in length. This allele, which encodes T-box transcription factor TBX3 protein, plays a role in both transcriptional regulation and anterior/posterior axis development. Mutation of the gene is associated with ulnar-mammary syndrome.;

GenBank Accession Number : BC025258;

Details

Origin ID

C101639;

UMLS CUI

C3539823;

Automatic exact mappings (from CISMeF team)
- T-box transcription factor 3 [ORDO Gene]
- Ulnar-mammary syndrome [OMIM Phenotype]
- Ulnar-mammary syndrome [ORDO Disease]
OMIM relation
- T-box transcription factor 3 [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
- 12q24.1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Limb Development [NCIt concept]
- Morphogenesis [NCIt concept]
- Negative Regulation of Apoptosis [NCIt concept]
- Skeletal Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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