User:Rockpocket/Baz1b

Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the BAZ1B gene.

This gene 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.

Animal models
Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1btm2a(KOMP)Wtsi, was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.

Six significant phenotypes were reported:


 * Less homozygous mutant mice survived to weaning than expected.
 * Mutant mice had decreased body weights compared to wildtype control mice.
 * Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
 * Radiography found teeth abnormalities.
 * Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral density and content.
 * Male heterozygous mice had higher bacterial counts after Salmonella infection.

Interactions
BAZ1B has been shown to interact with CHAF1B, TOP2B, SMARCC2, SMARCC1, SMARCB1, SUPT16H and Calcitriol receptor.