C52214Level 6
TFAP2B wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - AP-2 Beta - AP-2B - AP2-B - AP2-Beta - AP2b - CHAR - Transcription Factor AP-2 Beta (Activating Enhancer Binding Protein 2 Beta) wt Allele - Transcription Factor AP-2 Beta (Activating Enhancer-Binding Protein 2 Beta) Gene
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