{"symbol":"TFAP2A","synonyms":["TFAP2","AP-2ALPHA","BOFS","AP2TF","AP-2"],"name":"transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)","description":"The protein encoded by this gene is a transcription factor that binds the consensus sequence 5\u0027-GCCNNNGGC-3\u0027. 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]","ncbiEntrezGeneId":7020,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7020","proteins":[{"symbol":"AP2A_HUMAN","href":"/api/1.0/protein/AP2A_HUMAN"}],"hgncRootFamilies":[]}