Bromodomain Adjacent To Zinc Finger Domain Protein 1B (BAZ1B)

BAZ1B encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. The WSTF cDNA encodes a 1,425-amino acid protein that contains a PHD finger followed by a bromodomain. The protein shows 40 to 50% overall sequence identity with several transcription factors, including GCN5 and CBP. It also has multiple phosphorylation, N-myristylation, amidation, and potential glycosylation sites. Northern blot analysis detected ubiquitous expression of a 7.5-kb transcript; in adult issues, highest expression was found in heart, brain, placenta, skeletal muscle, and ovary.