ZZZ3

Chr 1

zinc finger ZZ-type containing 3

Also known as: ATAC1

NCBI Gene: 26009 ENSG00000036549 UniProt: Q8IYH5 OMIM: 619892

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables histone binding activity. Involved in several processes, including regulation of cell division; regulation of transcription by RNA polymerase II; and regulation of tubulin deacetylation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted