AP2B rabbit pAb

disease:Defects in TFAP2B are the cause of Char syndrome (CHAR) [MIM:169100]. CHAR is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.,function:Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2 beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.,online information:Activatin protein 2 entry,PTM:Sumoylated on Lys-21; which inhibits transcriptional activity.,similarity:Belongs to the AP-2 family.,subunit:Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with CITED4. Interacts with UBE2I.,