Gene Symbol | TFAP2A |
Entrez Gene ID | 7020 |
Full Name | transcription factor AP-2 alpha |
Synonyms | AP-2,AP-2alpha,AP2TF,BOFS,TFAP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Branchiooculofacial syndrome, 113620 (3) |