This gene encodes a member of thebromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved inchromatin-dependent regulation of transcription. This gene is deleted inWilliams-Beuren syndrome, adevelopmental disorder caused by deletion of multiple genes at 7q11.23.[7]
BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of theneural crest and theface. Research suggests that changes in BAZ1B may have been involved in "self-domesticating" humans.[8][9]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Peoples RJ, Cisco MJ, Kaplan P, Francke U (Feb 1999). "Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23".Cytogenetics and Cell Genetics.82 (3–4):238–46.doi:10.1159/000015110.PMID9858827.S2CID46824270.
^Lu X, Meng X, Morris CA, Keating MT (December 1998). "A novel human gene, WSTF, is deleted in Williams syndrome".Genomics.54 (2):241–9.doi:10.1006/geno.1998.5578.PMID9828126.
Jones MH, Hamana N, Nezu J, Shimane M (January 2000). "A novel family of bromodomain genes".Genomics.63 (1):40–5.doi:10.1006/geno.1999.6071.PMID10662543.
Pascual J, Martinez-Yamout M,Dyson HJ, Wright PE (December 2000). "Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor".Journal of Molecular Biology.304 (5):723–9.doi:10.1006/jmbi.2000.4308.PMID11124022.
Poot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, et al. (December 2004). "The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci".Nature Cell Biology.6 (12):1236–44.doi:10.1038/ncb1196.PMID15543136.S2CID23842462.
