ZZZ3
Chr 1zinc finger ZZ-type containing 3
Also known as: ATAC1
The protein is a histone H3 reader that maintains histone acetylation and gene activation as a component of the ATAC complex, which has histone acetyltransferase activity on histones H3 and H4. Mutations in this gene cause autosomal dominant intellectual disability with variable additional features including developmental delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
161 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 104 | 7 | 0 | 111 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 108 | 24 | 2 | 134 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZZZ3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools