BAZ1B bromodomain adjacent to zinc finger domain 1B
Gene ID: 9031, updated on 14-Nov-2024Gene type: protein coding
Also known as: WSTF; WBSCR9; WBSCR10
Summary
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. [provided by RefSeq, Jul 2008]
Associated conditions
| Description | Tests |
|---|---|
| Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
| Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. GeneReviews: Not available | |
| Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. GeneReviews: Not available | |
| Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. GeneReviews: Not available | |
| Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available |
Genomic context
- Location:
- 7q11.23
- Sequence:
- Chromosome: 7; NC_000007.14 (73440406..73522293, complement)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for BAZ1B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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