AP-2 Alpha/Beta Polyclonal Antibody, 100ul Site-directed Mutagenesis Mutations in this gene are

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

such as cardiac rhythm and circulation

|Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain

Riboflavin kinase (RFK

The encoded protein interacts with mitochondrial calcium uptake 1

AP-2 Alpha/Beta Polyclonal Antibody, 100ul Site-directed Mutagenesis Mutations in this gene areTranscription 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