AP-2 Alpha/Beta Polyclonal Antibody, 100ul Site-directed Mutagenesis Take on the challenge of

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Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD)

Mutations in this gene have been associated with pontocerebellar hypoplasia type 2

Read-through transcription exists between this gene and the neighboring upstream gene

AP-2 Alpha/Beta Polyclonal Antibody, 100ul Site-directed Mutagenesis Take on the challenge ofTranscription factor AP 2 alpha encoded by TFAP2A 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