TFAP2B

(redirected from AP-2B)

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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References in periodicals archive ?
This report describes a Turkish family including five individuals affected by this disorder with an R236C mutation in the gene encoding the neural-crest-related transcription factor AP-2b. Affected family members had the typical facial, hand and foot anomalies and additionally presented case has rarely reported polythelia and non reported hypoplasia of the 3rd finger.