BAZ1B

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

Function
This gene encodes a member of the is_associated_with::bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in is_associated_with::chromatin-dependent regulation of transcription. This gene is deleted in is_associated_with::Williams-Beuren syndrome, a is_associated_with::developmental disorder caused by deletion of multiple genes at 7q11.23.

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

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

Six significant is_associated_with::phenotypes were reported:


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

Interactions
BAZ1B has been shown to interact with:
 * is_associated_with::CHAF1A,
 * is_associated_with::SMARCB1,
 * is_associated_with::SMARCC1,
 * is_associated_with::SMARCC2,
 * is_associated_with::SUPT16H
 * is_associated_with::TOP2B, and
 * VDR.