BAZ1B

BAZ1B is a gene that 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 syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

Function

The protein encoded by the BAZ1B gene is a component of the chromatin remodeling complex WSTF-ISWI. This complex is involved in transcriptional activation of genes by nuclear hormone receptors. It also contains nucleosome remodeling activity. The encoded protein is also a part of the WICH complex, which contains WSTF and SNF2H. This complex is involved in the replication of DNA and maintenance of chromatin structure.

Clinical significance

Mutations in the BAZ1B gene are associated with Williams syndrome, a neurodevelopmental disorder characterized by cardiovascular disease, developmental delays, and learning disabilities. This gene is also implicated in translocations in patients with acute myeloid leukemia.

Research

Recent research has suggested that BAZ1B plays a crucial role in the development of the human face and brain. It has been suggested that changes in the regulation of this gene could be responsible for the distinctive facial features and cognitive traits of Williams syndrome.

See also

• Bromodomain
• Chromatin remodeling
• Williams syndrome
• WSTF-ISWI complex
• WICH complex