TFAP2B

(redirected from transcription factor AP-2 beta)

TFAP2B

A 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.

Molecular pathology
TFAP2B mutations cause autosomal dominant Char syndrome.
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Recently, two loci were identified, which influence on central adiposity: near the transcription factor AP-2 beta (TFAP2[beta]) and methionine sulfoxide reductase A (MSRA) and one in the fat distribution only in women: lysophospholipase-like-1 (LYPLAL1) (12).

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