JADE1

Chr 4

jade family PHD finger 1

Also known as: PHF17

NCBI Gene: 79960 ENSG00000077684 UniProt: Q6IE81

The JADE1 protein functions as a scaffold subunit of histone acetyltransferase complexes that acetylate histone H4, regulating DNA replication initiation and promoting apoptosis. Mutations cause autosomal dominant intellectual disability with seizures and dysmorphic features, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

Enables transcription coactivator activity. Contributes to histone acetyltransferase activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; regulation of cell growth; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within negative regulation of G1/S transition of mitotic cell cycle. Located in several cellular components, including cytosol; microtubule organizing center; and nuclear speck. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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