BACC1
Chr 17BPTF associated chromatin complex component 1
Also known as: BAP18, C17orf49, HEPIS
The BACC1 protein functions as a component of chromatin remodeling complexes including the MLL1/MLL and NURF complexes that regulate gene expression through chromatin organization. Mutations cause autosomal recessive intellectual disability with developmental delay and behavioral abnormalities. This represents a neurodevelopmental disorder with early childhood onset affecting cognitive function and behavior.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BACC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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Links to major genomics databases and tools