TFAP2B wt Allele

Preferred Label : TFAP2B wt Allele;

NCIt synonyms : CHAR; AP2-B; AP-2B; Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2 Beta) wt Allele; AP2-Beta; AP-2 Beta; Transcription Factor AP-2 Beta (Activating Enhancer-Binding Protein 2 Beta) Gene; AP2b;

NCIt definition : Human TFAP2B wild-type allele is located within 6p21-p12 and is approximately 25 kb in length. This allele, which encodes transcription factor AP-2-beta protein, is involved in gene expression modulation during ectodermal differentiation. Missense mutations of the wild-type allele can lead to autosomal dominant Char syndrome.;

GenBank Accession Number : NM_003221;

Details

Origin ID

C52214;

UMLS CUI

C1705949;

OMIM relation
- Transcription factor ap2-beta [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21-p12 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients