BAZ1B

Chr 7

bromodomain adjacent to zinc finger domain 1B

Also known as: WBSCR10, WBSCR9, WSTF

NCBI Gene: 9031 ENSG00000009954 UniProt: Q9UIG0 OMIM: 605681

This gene encodes a chromatin remodeling protein that regulates transcription and DNA repair through ATP-dependent nucleosome repositioning and histone phosphorylation. BAZ1B is deleted in Williams-Beuren syndrome, a multisystem developmental disorder affecting cardiovascular, neurodevelopmental, and behavioral domains that typically presents in early childhood. The gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.11

LOEUF· LoF intol.

LOF

Mechanism· predicted