BACC1

Chr 17

BPTF associated chromatin complex component 1

Also known as: BAP18, C17orf49, HEPIS

NCBI Gene: 124944 ENSG00000258315 UniProt: Q8IXM2

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.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. Part of MLL1 complex and NURF complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— BACC1

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ClinVar Variants

3 total variants — no pathogenic classifications of 3 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

19 pathogenic / likely-pathogenic (of 26) ClinVar copy-number / structural variants overlap BACC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →