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TFAP2BA gene on chromosome 6p12 that encodes a member of the AP-2 family of transcription factors, which activate the transcription of genes involved in proper eye, face, body wall, limb and neural tube development. TFAP2B inhibits C/EBP alpha, MCAM/MUC18 and MYC; it appears to be required for normal face and limb development, and for proper terminal differentiation and function of renal tubular epithelia.
TFAP2B mutations cause autosomal dominant Char syndrome.
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