BAZ1A Chromosome 14
Bromodomain adjacent to zinc finger domain 1A
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What This Gene Does
The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]
Gene Info
Gene Group
"PHD finger proteins|Bromodomain containing|Chromatin accessibility complex|ACF complex"
Locus Type
gene with protein product
Location
14q13.1-q13.2
Ensembl
ENSG00000198604
Associated Conditions (1)
VATER/VACTERL association with CNS malformations
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776556963 | Health Risk | Pathogenic | VATER/VACTERL association with CNS malformations, VATER/VACTERL association with CNS malformations |