BAZ1B

Updated on Dec 08, 2024

Edit

Comment

Species Human Entrez 9031		Human Mouse Ensembl ENSG00000009954

Aliases BAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B External IDs MGI: 1353499 HomoloGene: 22651 GeneCards: BAZ1B

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

Function

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 Baz1b^{tm2a(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:

Fewer 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:

CHAF1A,

SMARCB1,

SMARCC1,

SMARCC2,

SUPT16H

TOP2B, and

VDR.

References

BAZ1B Wikipedia

(Text) CC BY-SA

Contents

Function

Animal models

Interactions

References