TBX5 wt Allele

Preferred Label : TBX5 wt Allele;

NCIt synonyms : T-Box 5 wt Allele; HOS;

NCIt definition : Human TBX5 wild-type allele is located in the vicinity of 12q24.1 and is approximately 55 kb in length. This allele, which encodes T-box transcription factor TBX5 protein, plays a role in both transcription and mesoderm differentiation. Mutation of the gene is associated with Holt-Oram syndrome.;

GenBank Accession Number : U89353;

Details

Origin ID

C92149;

UMLS CUI

C2984877;

OMIM relation
- T-box transcription factor 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.1 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Limb Development [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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