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TFAP2A transcription factor AP-2 alpha

Also known as: AP-2; BOFS; AP2TF; TFAP2; AP-2alpha

Summary

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

Genomic context

Location:
6p24.3
Sequence:
Chromosome: 6; NC_000006.12 (10396677..10419897, complement)
Total number of exons:
11

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