AP-2 beta is a member of theAP-2 family oftranscription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor.[7]
Mutations in this gene result in autosomal dominantChar syndrome, suggesting that this gene functions in the differentiation ofneural crest cell derivatives.[7]
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^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
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Khetyar M, Syrris P, Tinworth L, et al. (2008). "Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus".Genet. Test.12 (3):457–9.doi:10.1089/gte.2008.0015.PMID18752453.
Fujimori K, Urade Y (2007). "Cooperative activation of lipocalin-type prostaglandin D synthase gene expression by activator protein-2beta in proximal promoter and upstream stimulatory factor 1 within intron 4 in human brain-derived TE671 cells".Gene.397 (1–2):143–52.doi:10.1016/j.gene.2007.04.029.PMID17574780.
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