Synonyms:AP-2, AP-2alpha, AP2TF, BOFS, ENTREZ:7020, HGNC:11742, MIM:107580, NM_001032280, NM_001042425, NM_001372066, NM_003220, NP_001027451, NP_001035890, NP_001358995, NP_003211, TFAP2, TFAP2A, XM_006715175, XM_011514833, XM_017011232, XP_006715238, XP_011513135, XP_016866721, transcription factor AP-2 alpha
Omim:OMIM:107580
Id:ENSG00000137203
Hgnc:HGNC:11742
Description:transcription factor AP-2 alpha
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]